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LOVD - Variant listings for ATRX

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119 entries
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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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
1 NM_000489.3:c.20+1G>A - - - - - - ATRX_00086 -
2 NM_000489.3:c.109C>T - - NP_000480.2:p.R37X - - - ATRX_00003 -
3 NM_000489.3:c.187G>T - - NP_000480.2:p.E63X - - - ATRX_00004 -
4 NM_000489.3:c.236C>G - - NP_000480.2:p.S79X - - - ATRX_00005 -
4 NM_000489.3:c.242+2T>C - - NP_000480.2:p.R81fs - - - ATRX_00087 -
5 NM_000489.3:c.370G>T - - NP_000480.2:p.R81fs - - - ATRX_00088 -
6 NM_000489.3:c.390_391insA - - NP_000480.2:p.E131fs - - - ATRX_00089 -
6 NM_000489.3:c.413_414delAA - - NP_000480.2:p.K138fs - - - ATRX_00090 -
8 NM_000489.3:c.521G>A - - NP_000480.2:p.C174Y - - - ATRX_00006 -
8 NM_000489.3:c.524G>A - - NP_000480.2:p.G175E - - - ATRX_00007 -
8 NM_000489.3:c.528_529insCAA - - NP_000480.2:p.176_177insQ - - - ATRX_00091 -
8 NM_000489.3:c.536A>G - - NP_000480.2:p.V178_K198del - - - ATRX_00093 -
8 NM_000489.3:c.565C>G - - NP_000480.2:p.H189D - - - ATRX_00008 -
8 NM_000489.3:c.568C>G - - NP_000480.2:p.P190A - - - ATRX_00009 -
8 NM_000489.3:c.568C>T - - NP_000480.2:p.P190S - - - ATRX_00010 -
8 NM_000489.3:c.569C>T - - NP_000480.2:p.P190L - - - ATRX_00011 -
8 NM_000489.3:c.576G>C
  (Reported 2 times)		 - - NP_000480.2:p.L192F - - - ATRX_00012 -
8 NM_000489.3:c.580G>A - - NP_000480.2:p.V194I - - - ATRX_00015 -
8 NM_000489.3:c.581T>C - - NP_000480.2:p.V194A - - - ATRX_00014 -
8 NM_000489.3:c.590G>T - - NP_000480.2:p.C197F - - - ATRX_00016 -
9 NM_000489.3:c.599G>C - - NP_000480.2:p.C200S - - - ATRX_00017 -
9 NM_000489.3:c.656A>C - - NP_000480.2:p.Q219P - - - ATRX_00018 -
9 NM_000489.3:c.658T>C - - NP_000480.2:p.C220R - - - ATRX_00019 -
9 NM_000489.3:c.659G>A - - NP_000480.2:p.C220Y - - - ATRX_00020 -
10 NM_000489.3:c.1226T>C - - NP_000480.2:p.L409S - - - ATRX_00045 -
10 NM_000489.3:c.1725delA - - NP_000480.2:p.K575fs - - - ATRX_00099 -
10 NM_000489.3:c.1727C>A - - NP_000480.2:p.S576X - - - ATRX_00046 -
10 NM_000489.3:c.1727C>G - - NP_000480.2:p.S576X - - - ATRX_00047 -
10 NM_000489.3:c.1748delC - - NP_000480.2:p.T583fs - - - ATRX_00100 -
10 NM_000489.3:c.665G>C - - NP_000480.2:p.W222S - - - ATRX_00021 -
10 NM_000489.3:c.666G>T - - NP_000480.2:p.W222C - - - ATRX_00022 -
10 NM_000489.3:c.667T>C - - NP_000480.2:p.C223R - - - ATRX_00023 -
10 NM_000489.3:c.668G>T - - NP_000480.2:p.C223F - - - ATRX_00024 -
10 NM_000489.3:c.687G>C - - NP_000480.2:p.L229F - - - ATRX_00025 -
10 NM_000489.3:c.709A>G - - NP_000480.2:p.N237D - - - ATRX_00026 -
10 NM_000489.3:c.712G>C - - NP_000480.2:p.A238P - - - ATRX_00027 -
10 NM_000489.3:c.717C>A - - NP_000480.2:p.F239L - - - ATRX_00028 -
10 NM_000489.3:c.717C>G - - NP_000480.2:p.F239L - - - ATRX_00029 -
10 NM_000489.3:c.718T>G - - NP_000480.2:p.C240G - - - ATRX_00030 -
10 NM_000489.3:c.719G>T - - NP_000480.2:p.C240F - - - ATRX_00031 -
10 NM_000489.3:c.727T>C - - NP_000480.2:p.C243R - - - ATRX_00032 -
10 NM_000489.3:c.731T>A - - NP_000480.2:p.I244N - - - ATRX_00033 -
10 NM_000489.3:c.734T>C - - NP_000480.2:p.L245P - - - ATRX_00034 -
10 NM_000489.3:c.736C>T - - NP_000480.2:p.R246C - - - ATRX_00035 -
10 NM_000489.3:c.737G>T - - NP_000480.2:p.R246L - - - ATRX_00036 -
10 NM_000489.3:c.739A>G - - NP_000480.2:p.N247D - - - ATRX_00037 -
10 NM_000489.3:c.745G>T - - NP_000480.2:p.G249C - - - ATRX_00038 -
10 NM_000489.3:c.746G>A - - NP_000480.2:p.G249D - - - ATRX_00039 -
10 NM_000489.3:c.787T>C - - NP_000480.2:p.W263R - - - ATRX_00040 -
10 NM_000489.3:c.794G>A
  (Reported 2 times)		 - - NP_000480.2:p.C265Y - - - ATRX_00041 -
10 NM_000489.3:c.797A>G
  (Reported 2 times)		 - - NP_000480.2:p.Y266C - - - ATRX_00043 -
12 NM_000489.3:c.3944-2A>G - - NP_000480.2:p.E1315fs - - - ATRX_00101 -
15 NM_000489.3:c.4317G>A - - NP_000480.2:p.S1440fs - - - ATRX_00102 -
17 NM_000489.3:c.4613T>G - - NP_000480.2:p.V1538G - - - ATRX_00103 -
17 NM_000489.3:c.4617_4622del - - NP_000480.2:p.1540_1541delDE - - - ATRX_00104 -
17 NM_000489.3:c.4626_4631del - - NP_000480.2:p.1542_1543delDE - - - ATRX_00105 -
17 NM_000489.3:c.4654G>T - - NP_000480.2:p.V1552F - - - ATRX_00048 -
19 NM_000489.3:c.4826A>G - - NP_000480.2:p.H1609R - - - ATRX_00049 -
19 NM_000489.3:c.4840T>C - - NP_000480.2:p.C1614R - - - ATRX_00050 -
19 NM_000489.3:c.4862C>T - - NP_000480.2:p.T1621M - - - ATRX_00051 -
19 NM_000489.3:c.4864G>A - - NP_000480.2:p.A1622T - - - ATRX_00052 -
19 NM_000489.3:c.4868T>C - - NP_000480.2:p.L1623S - - - ATRX_00053 -
19 NM_000489.3:c.4870G>A - - NP_000480.2:p.V1624M - - - ATRX_00054 -
19 NM_000489.3:c.4884_4887 - - NP_000480.2:p.N1629L - - - ATRX_00106 -
19 NM_000489.3:c.4934T>C - - NP_000480.2:p.L1645S - - - ATRX_00055 -
19 NM_000489.3:c.4950G>T - - NP_000480.2:p.K1650N - - - ATRX_00056 -
20 NM_000489.3:c.5039T>C - - NP_000480.2:p.I1680T - - - ATRX_00057 -
20 NM_000489.3:c.5075G>A - - NP_000480.2:p.G1692E - - - ATRX_00058 -
20 NM_000489.3:c.5120C>A - - NP_000480.2:p.A1707D - - - ATRX_00059 -
21 NM_000489.3:c.5137C>T - - NP_000480.2:p.P1713S - - - ATRX_00060 -
21 NM_000489.3:c.5197A>G - - NP_000480.2:p.K1733E - - - ATRX_00061 -
21 NM_000489.3:c.5225G>A - - NP_000480.2:p.R1742K - - - ATRX_00062 -
21 NM_000489.3:c.5237T>C - - NP_000480.2:p.L1746S - - - ATRX_00063 -
21 NM_000489.3:c.5262C>A - - NP_000480.2:p.N1754K - - - ATRX_00064 -
21 NM_000489.3:c.5273-10T>A - - NP_000480.2:p.Y1758fs - - - ATRX_00108 -
21 NM_000489.3:c.5273-5C>G - - NP_000480.2:p.Y1758fs - - - ATRX_00109 -
22 NM_000489.3:c.5328C>G - - NP_000480.2:p.F1776L - - - ATRX_00065 -
23 NM_000489.3:c.5498A>G - - NP_000480.2:p.Y1833C - - - ATRX_00066 -
23 NM_000489.3:c.5540A>G - - NP_000480.2:p.Y1847C - - - ATRX_00067 -
23 NM_000489.3:c.5567-3C>G - - - - - - ATRX_00110 -
25 NM_000489.3:c.5721G>A - - NP_000480.2:p.G1900fs - - - ATRX_00111 -
26 NM_000489.3:c.5957-2A>G - - NP_000480.2:p.1986_2007del - - - ATRX_00112 -
27 NM_000489.3:c.6003G>A - - NP_000480.2:p.1986_2007del - - - ATRX_00113 -
27 NM_000489.3:c.6083G>C - - NP_000480.2:p.R2028P - - - ATRX_00068 -
27 NM_000489.3:c.6104A>T - - NP_000480.2:p.D2035V - - - ATRX_00069 -
28 NM_000489.3:c.6149T>C - - NP_000480.2:p.I2050T - - - ATRX_00070 -
28 NM_000489.3:c.6218-12574G>A - - NP_000480.2:p.G2073fs - - - ATRX_00116 -
29 NM_000489.3:c.6244G>C - - NP_000480.2:p.D2082H - - - ATRX_00071 -
29 NM_000489.3:c.6250T>C - - NP_000480.2:p.Y2084H - - - ATRX_00072 -
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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.
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

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