LOVD - Variant listings for ATRX

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-?/? - c.234C>T S78S r.(?) p.? - 1/208 familial, X-linked ATRX_00125 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators mental retardation, X-linked Tarpey 2009, United Kingdom (Great Britain):Cambridge DNA SEQ for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 -
-?/? - c.568_576delGCTTTTAAG A190_S193>S r.(?) p.? - 1/208 familial, X-linked ATRX_00130 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators mental retardation, X-linked Tarpey 2009, United Kingdom (Great Britain):Cambridge DNA SEQ for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 -
-?/? - c.826A>G T276A r.(?) p.? - 1/208 familial, X-linked ATRX_00133 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators mental retardation, X-linked Tarpey 2009, United Kingdom (Great Britain):Cambridge DNA SEQ for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 -
-?/? - c.1983C>G H661Q r.(?) p.? - 2/208 familial, X-linked ATRX_00134 recurrent, found 2 times; variant and/or predicted effect could not be not confirmed by curators mental retardation, X-linked Tarpey 2009, United Kingdom (Great Britain):Cambridge DNA SEQ for details contact Lucy Raymond (flr24 @ cam.ac.uk) 2 -
-/? - c.2173C>G Q725E r.(?) p.? - 39/208 familial, X-linked ATRX_00124 recurrent, found 39 times; variant and/or predicted effect could not be not confirmed by curators mental retardation, X-linked Tarpey 2009, United Kingdom (Great Britain):Cambridge DNA SEQ for details contact Lucy Raymond (flr24 @ cam.ac.uk) 39 -
-?/? - c.4253C>T A1418V r.(?) p.? - 1/208 familial, X-linked ATRX_00126 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators mental retardation, X-linked Tarpey 2009, United Kingdom (Great Britain):Cambridge DNA SEQ for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 -
-?/? - c.4525C>T P1509S r.(?) p.? - 1/208 familial, X-linked ATRX_00127 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators mental retardation, X-linked Tarpey 2009, United Kingdom (Great Britain):Cambridge DNA SEQ for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 -
-?/? - c.4967A>G N1656S r.(?) p.? - 2/208 familial, X-linked ATRX_00128 recurrent, found 2 times; variant and/or predicted effect could not be not confirmed by curators mental retardation, X-linked Tarpey 2009, United Kingdom (Great Britain):Cambridge DNA SEQ for details contact Lucy Raymond (flr24 @ cam.ac.uk) 2 -
-?/? - c.5642G>A R1881H r.(?) p.? - 1/208 familial, X-linked ATRX_00129 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators mental retardation, X-linked Tarpey 2009, United Kingdom (Great Britain):Cambridge DNA SEQ for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 -
-?/? - c.6149A>C H2050P r.(?) p.? - 1/208 familial, X-linked ATRX_00131 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators mental retardation, X-linked Tarpey 2009, United Kingdom (Great Britain):Cambridge DNA SEQ for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 -
-?/? - c.6642C>T Y2214Y r.(?) p.? - 1/208 familial, X-linked ATRX_00132 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators mental retardation, X-linked Tarpey 2009, United Kingdom (Great Britain):Cambridge DNA SEQ for details contact Lucy Raymond (flr24 @ cam.ac.uk) 1 -
?/? 1 NM_000489.3:c.20+1G>A - - - - - - ATRX_00086 - ATMDS Gibbons, et al., 2003 DNA SEQ splicing abnormality 1 -
?/? 2 NM_000489.3:c.109C>T - - NP_000480.2:p.R37X - - - ATRX_00003 - ATR-X Guerrini, et al., 2000 DNA SEQ - 1 -
?/? 3 NM_000489.3:c.187G>T - - NP_000480.2:p.E63X - - - ATRX_00004 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 4 NM_000489.3:c.236C>G - - NP_000480.2:p.S79X - - - ATRX_00005 - ATMDS Gibbons, et al., 2003 DNA SEQ - 1 -
?/? 4 NM_000489.3:c.242+2T>C - - NP_000480.2:p.R81fs - - - ATRX_00087 - ATMDS Nelson, et al., 2005 DNA SEQ cDNA affect insertion 43bp 1 -
?/? 5 NM_000489.3:c.370G>T - - NP_000480.2:p.R81fs - - - ATRX_00088 - ATR-X Nelson, et al., 2006 DNA SEQ cDNA affect 243_484del 1 -
?/? 6 NM_000489.3:c.390_391insA - - NP_000480.2:p.E131fs - - - ATRX_00089 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 6 NM_000489.3:c.413_414delAA - - NP_000480.2:p.K138fs - - - ATRX_00090 - ATR-X Gibbons and Higgs, 2000 DNA SEQ - 1 -
?/? 8 NM_000489.3:c.521G>A - - NP_000480.2:p.C174Y - - - ATRX_00006 - ATMDS Haas et al., 2009 DNA SEQ - 1 -
?/? 8 NM_000489.3:c.524G>A - - NP_000480.2:p.G175E - - - ATRX_00007 - ATR-X Villard et al., 1999 DNA SEQ - 1 -
?/? 8 NM_000489.3:c.528_529insCAA - - NP_000480.2:p.176_177insQ - - - ATRX_00091 - ATR-X Gibbons, et al., 1997 DNA SEQ - 1 -
?/? 8 NM_000489.3:c.536A>G - - NP_000480.2:p.V178_K198del - - - ATRX_00093 - ATR-X Picketts, et al., 1996 DNA SEQ cDNA affect 532-594del 1 -
?/? 8 NM_000489.3:c.565C>G - - NP_000480.2:p.H189D - - - ATRX_00008 - ATR-X Badens et al., 2006 DNA SEQ - 1 -
?/? 8 NM_000489.3:c.568C>G - - NP_000480.2:p.P190A - - - ATRX_00009 - ATR-X Gibbons et al., 1997 DNA SEQ - 1 -
?/? 8 NM_000489.3:c.568C>T - - NP_000480.2:p.P190S - - - ATRX_00010 - ATR-X Gibbons and Higgs, 2000 DNA SEQ - 1 -
?/? 8 NM_000489.3:c.569C>T - - NP_000480.2:p.P190L - - - ATRX_00011 - ATR-X Wada et al., 2000 DNA SEQ - 1 -
?/? 8 NM_000489.3:c.576G>C - - NP_000480.2:p.L192F - - - ATRX_00012 - ATR-X Gibbons et al., 1997 DNA SEQ - 1 -
?/? 8 NM_000489.3:c.576G>C - - NP_000480.2:p.L192F - - - ATRX_00013 - ATMDS Steensma et al., 2004 DNA SEQ - 1 -
?/? 8 NM_000489.3:c.580G>A - - NP_000480.2:p.V194I - - - ATRX_00015 - ATR-X Wada et al., 2000 DNA SEQ - 1 -
?/? 8 NM_000489.3:c.581T>C - - NP_000480.2:p.V194A - - - ATRX_00014 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 8 NM_000489.3:c.590G>T - - NP_000480.2:p.C197F - - - ATRX_00016 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 9 NM_000489.3:c.599G>C - - NP_000480.2:p.C200S - - - ATRX_00017 - ATR-X Gibbons et al., 1997 DNA SEQ - 1 -
?/? 9 NM_000489.3:c.656A>C - - NP_000480.2:p.Q219P - - - ATRX_00018 - ATR-X Villard et al., 1999 DNA SEQ - 1 -
?/? 9 NM_000489.3:c.658T>C - - NP_000480.2:p.C220R - - - ATRX_00019 - ATR-X Gibbons et al., 1997 DNA SEQ - 1 -
?/? 9 NM_000489.3:c.659G>A - - NP_000480.2:p.C220Y - - - ATRX_00020 - ATR-X Stevenson et al., 2000 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.1226T>C - - NP_000480.2:p.L409S - - - ATRX_00045 - ATR-X Wieland et al., 2005 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.1725delA - - NP_000480.2:p.K575fs - - - ATRX_00099 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.1727C>A - - NP_000480.2:p.S576X - - - ATRX_00046 - ATR-X Gibbons and Higgs, 2000 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.1727C>G - - NP_000480.2:p.S576X - - - ATRX_00047 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.1748delC - - NP_000480.2:p.T583fs - - - ATRX_00100 - ATR-X Gibbons and Higgs, 2000 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.665G>C - - NP_000480.2:p.W222S - - - ATRX_00021 - ATR-X Gibbons et al., 1997 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.666G>T - - NP_000480.2:p.W222C - - - ATRX_00022 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.667T>C - - NP_000480.2:p.C223R - - - ATRX_00023 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.668G>T - - NP_000480.2:p.C223F - - - ATRX_00024 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.687G>C - - NP_000480.2:p.L229F - - - ATRX_00025 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.709A>G - - NP_000480.2:p.N237D - - - ATRX_00026 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.712G>C - - NP_000480.2:p.A238P - - - ATRX_00027 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.717C>A - - NP_000480.2:p.F239L - - - ATRX_00028 - ATR-X Gibbons and Higgs, 2000 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.717C>G - - NP_000480.2:p.F239L - - - ATRX_00029 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.718T>G - - NP_000480.2:p.C240G - - - ATRX_00030 - ATMDS Steensma et al., 2004 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.719G>T - - NP_000480.2:p.C240F - - - ATRX_00031 - ATR-X Gibbons et al., 1997 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.727T>C - - NP_000480.2:p.C243R - - - ATRX_00032 - ATR-X Wada et al., 2006 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.731T>A - - NP_000480.2:p.I244N - - - ATRX_00033 - ATR-X Gibbons and Higgs, 2000 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.734T>C - - NP_000480.2:p.L245P - - - ATRX_00034 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.736C>T - - NP_000480.2:p.R246C - - - ATRX_00035 - ATR-X Gibbons et al., 1997 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.737G>T - - NP_000480.2:p.R246L - - - ATRX_00036 - ATR-X Fichera et al., 1998 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.739A>G - - NP_000480.2:p.N247D - - - ATRX_00037 - ATR-X Gibbons and Higgs, 2000 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.745G>T - - NP_000480.2:p.G249C - - - ATRX_00038 - ATR-X Villard et al., 1999 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.746G>A - - NP_000480.2:p.G249D - - - ATRX_00039 - ATR-X Gibbons et al., 1997 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.787T>C - - NP_000480.2:p.W263R - - - ATRX_00040 - ATR-X Gibbons and Higgs, 2000 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.794G>A - - NP_000480.2:p.C265Y - - - ATRX_00041 - ATMDS Steensma et al., 2004 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.794G>A - - NP_000480.2:p.C265Y - - - ATRX_00042 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.797A>G - - NP_000480.2:p.Y266C - - - ATRX_00043 - ATR-X Gibbons and Higgs, 2000 DNA SEQ - 1 -
?/? 10 NM_000489.3:c.797A>G - - NP_000480.2:p.Y266C - - - ATRX_00044 - ATMDS Steensma et al., 2007 DNA SEQ - 1 -
?/? 12 NM_000489.3:c.3944-2A>G - - NP_000480.2:p.E1315fs - - - ATRX_00101 - ATR-X Fichera, et al., 1998 DNA SEQ cDNA affect insertion 86bp 1 -
?/? 15 NM_000489.3:c.4317G>A - - NP_000480.2:p.S1440fs - - - ATRX_00102 - ATR-X Picketts, et al., 1996 DNA SEQ cDNA affect insertion 53bp 1 -
?/? 17 NM_000489.3:c.4613T>G - - NP_000480.2:p.V1538G - - - ATRX_00103 - ATR-X Picketts, et al., 1996 DNA SEQ - 1 -
?/? 17 NM_000489.3:c.4617_4622del - - NP_000480.2:p.1540_1541delDE - - - ATRX_00104 - ATR-X Gibbons and Higgs, 2000 DNA SEQ - 1 -
?/? 17 NM_000489.3:c.4626_4631del - - NP_000480.2:p.1542_1543delDE - - - ATRX_00105 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 17 NM_000489.3:c.4654G>T - - NP_000480.2:p.V1552F - - - ATRX_00048 - ATR-X Wada et al., 2000 DNA SEQ - 1 -
?/? 19 NM_000489.3:c.4826A>G - - NP_000480.2:p.H1609R - - - ATRX_00049 - ATR-X Gibbons, et al., 1995 DNA SEQ - 1 -
?/? 19 NM_000489.3:c.4840T>C - - NP_000480.2:p.C1614R - - - ATRX_00050 - ATR-X Gibbons, et al., 1995 DNA SEQ - 1 -
?/? 19 NM_000489.3:c.4862C>T - - NP_000480.2:p.T1621M - - - ATRX_00051 - ATR-X Yntema, et al., 2002 DNA SEQ - 1 -
?/? 19 NM_000489.3:c.4864G>A - - NP_000480.2:p.A1622T - - - ATRX_00052 - ATR-X Gibbons and Higgs, 2000 DNA SEQ - 1 -
?/? 19 NM_000489.3:c.4868T>C - - NP_000480.2:p.L1623S - - - ATRX_00053 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 19 NM_000489.3:c.4870G>A - - NP_000480.2:p.V1624M - - - ATRX_00054 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 19 NM_000489.3:c.4884_4887 - - NP_000480.2:p.N1629L - - - ATRX_00106 - ATR-X Gibbons, et al., 2008 DNA SEQ TAAT>ATTA 1 -
?/? 19 NM_000489.3:c.4934T>C - - NP_000480.2:p.L1645S - - - ATRX_00055 - ATR-X Wada et al., 2000 DNA SEQ - 1 -
?/? 19 NM_000489.3:c.4950G>T - - NP_000480.2:p.K1650N - - - ATRX_00056 - ATR-X Gibbons, et al., 1995 DNA SEQ - 1 -
?/? 20 NM_000489.3:c.5039T>C - - NP_000480.2:p.I1680T - - - ATRX_00057 - ATR-X Gibbons and Higgs, 2000 DNA SEQ - 1 -
?/? 20 NM_000489.3:c.5075G>A - - NP_000480.2:p.G1692E - - - ATRX_00058 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 20 NM_000489.3:c.5120C>A - - NP_000480.2:p.A1707D - - - ATRX_00059 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 21 NM_000489.3:c.5137C>T - - NP_000480.2:p.P1713S - - - ATRX_00060 - ATR-X Villard, et al., 1996 DNA SEQ - 1 -
?/? 21 NM_000489.3:c.5197A>G - - NP_000480.2:p.K1733E - - - ATRX_00061 - ATR-X Borgione, et al., 2003 DNA SEQ - 1 -
?/? 21 NM_000489.3:c.5225G>A - - NP_000480.2:p.R1742K - - - ATRX_00062 - ATR-X Lossi, et al., 1999 DNA SEQ - 1 -
?/? 21 NM_000489.3:c.5237T>C - - NP_000480.2:p.L1746S - - - ATRX_00063 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 21 NM_000489.3:c.5262C>A - - NP_000480.2:p.N1754K - - - ATRX_00064 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 21 NM_000489.3:c.5273-10T>A - - NP_000480.2:p.Y1758fs - - - ATRX_00108 - ATR-X Badens, et al., 1996 DNA SEQ cDNA affect 5273_5448del 1 -
?/? 21 NM_000489.3:c.5273-5C>G - - NP_000480.2:p.Y1758fs - - - ATRX_00109 - ATR-X Gibbons, et al., 2008 DNA SEQ cDNA affect 5273_5448del 1 -
?/? 22 NM_000489.3:c.5328C>G - - NP_000480.2:p.F1776L - - - ATRX_00065 - ATR-X Gibbons, et al., 2008 DNA SEQ - 1 -
?/? 23 NM_000489.3:c.5498A>G - - NP_000480.2:p.Y1833C - - - ATRX_00066 - ATR-X Gibbons and Higgs, 2000 DNA SEQ - 1 -
?/? 23 NM_000489.3:c.5540A>G - - NP_000480.2:p.Y1847C - - - ATRX_00067 - ATR-X Wada et al., 2000 DNA SEQ - 1 -
?/? 23 NM_000489.3:c.5567-3C>G - - - - - - ATRX_00110 - ATMDS Steensma, et al., 2004 DNA SEQ splicing abnormality 1 -
?/? 25 NM_000489.3:c.5721G>A - - NP_000480.2:p.G1900fs - - - ATRX_00111 - ATR-X Gibbons, et al., 2008 DNA SEQ cDNA affect 5698_5786del 1 -
?/? 26 NM_000489.3:c.5957-2A>G - - NP_000480.2:p.1986_2007del - - - ATRX_00112 - ATR-X Gibbons and Higgs, 2000 DNA SEQ cDNA affect 5957_6022del 1 -
?/? 27 NM_000489.3:c.6003G>A - - NP_000480.2:p.1986_2007del - - - ATRX_00113 - ATR-X Gibbons, et al., 2008 DNA SEQ cDNA affect 5957_6022del 1 -
?/? 27 NM_000489.3:c.6083G>C - - NP_000480.2:p.R2028P - - - ATRX_00068 - ATMDS Steensma et al., 2004 DNA SEQ - 1 -
?/? 27 NM_000489.3:c.6104A>T - - NP_000480.2:p.D2035V - - - ATRX_00069 - ATR-X Gibbons, et al., 1995 DNA SEQ - 1 -
?/? 28 NM_000489.3:c.6149T>C - - NP_000480.2:p.I2050T - - - ATRX_00070 - ATR-X Abidi, et al., 1999 DNA SEQ - 1 -
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Legend: [ ATRX full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA published: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. Origin: Origin ATRX DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Disease Mesh ID: Mesh ID