LOVD - Variant listings for KLF1

About this overview [Show]

36 entries
entries per page

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
Ascending

Re-site Hide Re-site column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending
- NC_000019.9:g.12998078T>C - - - - KLF1_00012
- NC_000019.9:g.12998102G>A - - - - KLF1_00011
1 c.13G>A
  (Reported 2 times)
- p.Glu5Lys - 1 KLF1_00033
2 NM_006563.2:c.115A>C - NP_006554.1:p.Met39Leu - 10 KLF1_00009
2 NM_006563.2:c.380T>A - NP_006554.1:p.Leu127X - 1 KLF1_00001
2 NM_006563.2:c.569delC - NP_006554.1:p.Pro190LeufsX47 - 6 KLF1_00002
2 NM_006563.2:c.862A>T - NP_006554.1:p.Lys288X - 10 KLF1_00010
2 NM_006563.2:c.874A>T - NP_006554.1:p.Lys292X - 1 KLF1_00003
2 NM_006563.2:c.895C>T - NP_006554.1:p.His299Tyr - 1 KLF1_00004
2 NM_006563.3:c.519_525dupCGGCGCC
  (Reported 2 times)
- p.Gly176ArgfsTer179 - - KLF1_00035
2 NM_006563.3:c.544T>C - NP_006554.1:p.Phe182Leu - - KLF1_00014
2 NM_006563.3:c.809C>A - NP_006554.1:p.Ser270X - 25 KLF1_00015
2 NM_006563.3:c.892G>C - p.Ala298Pro - - KLF1_00034
2 c.310_311insG - p.Ala104GlyfsTer249 - - KLF1_00018
2 c.519_520insC - p.Gly174ArgfsTer179 - - KLF1_00019
2 c.519_525dupCGGCGCC
  (Reported 2 times)
- p.Gly176ArgfsTer179 - - KLF1_00020
2 c.569delC - p.Pro190LeufsTer47 - - KLF1_00021
2 c.591C>G - p.Tyr197Ter - - KLF1_00022
2 c.663delG - p.Leu222SerfsTer15 - - KLF1_00023
2 c.862A>G - p.Lys288Glu - - KLF1_00024
2 c.892G>C - p.Ala298Pro - 1 KLF1_00028
2 c.895C>G - p.His299Asp - 10 KLF1_00029
2 c.913+1G>A - - - 1 KLF1_00031
3 c.1071C>A - p.His357Gln - - KLF1_00027
3 NM_006563.2:c.954dupG - NP_006554.1:p.Arg319GlufsX34 - 8 KLF1_00005
3 NM_006563.2:c.973G>A - NP_006554.1:p.Glu325Lys - - KLF1_00013
3 NM_006563.2:c.983G>A - NP_006554.1:p.Arg328His - 1 KLF1_00007
3 NM_006563.2:c.983G>T - NP_006554.1:p.Arg328Leu - 1 KLF1_00006
3 NM_006563.2:c.991C>G - NP_006554.1:p.Arg331Gly - 1 KLF1_00008
3 NM_006563.3:c.1012C>T - p.Pro338Ser - - KLF1_00036
3 NM_006563.3:c.977T>G - NP_006554.1:p.Leu326Arg - 1 KLF1_00016
3 NM_006563.3:c.994A>C - NP_006554.1:p.Lys332Gln - 4 KLF1_00017
3 c.954_955insG - p.Arg319GlufsTer34 - - KLF1_00025
3 c.977T>G - p.Leu326Arg - - KLF1_00026
3 c.1001C>G - p.Thr334Arg - 1 KLF1_00032
3 c.1022G>A - p.Cys341Tyr - 2 KLF1_00030
1 - 36

Save Click here to save this list in a tab-delimited text file.

Legend: [ KLF1 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.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. 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. KLF1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.