Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/A/G | Ancestral: T | Ambiguity code: D | MAF: < 0.01 (C)
Location

Chromosome 17:81511913 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032826

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_004_ACTG1_102560_0002

This variation has 54 HGVS names - click the plus to show

Variant allele A
17:g.81511913T>A
ENST00000575994.4:c.353A>T
ENSP00000460464.1:p.Lys118Met
ENST00000576214.2:n.374A>T
ENST00000576209.4:n.238A>T
ENST00000576917.4:n.406A>T
ENST00000572105.5:c.353A>T
ENSP00000462823.1:p.Lys118Met
ENST00000615544.3:c.353A>T
ENSP00000477968.1:p.Lys118Met
ENST00000575842.4:c.353A>T
ENSP00000458162.1:p.Lys118Met
ENST00000571691.4:c.326A>T
ENSP00000461407.1:p.Lys109Met
ENST00000573283.4:c.353A>T
ENSP00000458435.1:p.Lys118Met
ENST00000571721.4:c.353A>T
ENSP00000460660.1:p.Lys118Met
ENST00000331925.5:c.353A>T
ENSP00000331514.2:p.Lys118Met
ENST00000575087.4:c.353A>T
ENSP00000459124.1:p.Lys118Met
ENST00000576544.4:c.353A>T
ENSP00000461672.1:p.Lys118Met
ENST00000575659.4:c.353A>T
ENSP00000459119.1:p.Lys118Met
ENST00000570382.1:c.339+14A>T

Variant allele G
17:g.81511913T>G
ENST00000575994.4:c.353A>C
ENSP00000460464.1:p.Lys118Thr
ENST00000576214.2:n.374A>C
ENST00000576209.4:n.238A>C
ENST00000576917.4:n.406A>C
ENST00000572105.5:c.353A>C
ENSP00000462823.1:p.Lys118Thr
ENST00000615544.3:c.353A>C
ENSP00000477968.1:p.Lys118Thr
ENST00000575842.4:c.353A>C
ENSP00000458162.1:p.Lys118Thr
ENST00000571691.4:c.326A>C
ENSP00000461407.1:p.Lys109Thr
ENST00000573283.4:c.353A>C
ENSP00000458435.1:p.Lys118Thr
ENST00000571721.4:c.353A>C
ENSP00000460660.1:p.Lys118Thr
ENST00000331925.5:c.353A>C
ENSP00000331514.2:p.Lys118Thr
ENST00000575087.4:c.353A>C
ENSP00000459124.1:p.Lys118Thr
ENST00000576544.4:c.353A>C
ENSP00000461672.1:p.Lys118Thr
ENST00000575659.4:c.353A>C
ENSP00000459119.1:p.Lys118Thr
ENST00000570382.1:c.339+14A>C

About this variant

This variant overlaps 39 transcripts, has 2504 individual genotypes and is associated with 2 phenotypes.

Variation displays