Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variant

HGMD-PUBLIC CM032826

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_004_ACTG1_102560_0002

HGVS names

This variant has 54 HGVS names - Hide

Variant allele A
17:g.81511913T>A
ENST00000575994.5:c.353A>T
ENSP00000460464.1:p.Lys118Met
ENST00000576214.2:n.374A>T
ENST00000576209.5:n.238A>T
ENST00000572105.6:c.353A>T
ENSP00000462823.1:p.Lys118Met
ENST00000576917.5:n.406A>T
ENST00000615544.4:c.353A>T
ENSP00000477968.1:p.Lys118Met
ENST00000575842.5:c.353A>T
ENSP00000458162.1:p.Lys118Met
ENST00000571691.5:c.326A>T
ENSP00000461407.1:p.Lys109Met
ENST00000573283.5:c.353A>T
ENSP00000458435.1:p.Lys118Met
ENST00000571721.5:c.353A>T
ENSP00000460660.1:p.Lys118Met
ENST00000331925.6:c.353A>T
ENSP00000331514.2:p.Lys118Met
ENST00000575087.5:c.353A>T
ENSP00000459124.1:p.Lys118Met
ENST00000576544.5:c.353A>T
ENSP00000461672.1:p.Lys118Met
ENST00000575659.5:c.353A>T
ENSP00000459119.1:p.Lys118Met
ENST00000570382.1:c.339+14A>T

Variant allele C
17:g.81511913T>C
ENST00000575994.5:c.353A>G
ENSP00000460464.1:p.Lys118Arg
ENST00000576214.2:n.374A>G
ENST00000576209.5:n.238A>G
ENST00000572105.6:c.353A>G
ENSP00000462823.1:p.Lys118Arg
ENST00000576917.5:n.406A>G
ENST00000615544.4:c.353A>G
ENSP00000477968.1:p.Lys118Arg
ENST00000575842.5:c.353A>G
ENSP00000458162.1:p.Lys118Arg
ENST00000571691.5:c.326A>G
ENSP00000461407.1:p.Lys109Arg
ENST00000573283.5:c.353A>G
ENSP00000458435.1:p.Lys118Arg
ENST00000571721.5:c.353A>G
ENSP00000460660.1:p.Lys118Arg
ENST00000331925.6:c.353A>G
ENSP00000331514.2:p.Lys118Arg
ENST00000575087.5:c.353A>G
ENSP00000459124.1:p.Lys118Arg
ENST00000576544.5:c.353A>G
ENSP00000461672.1:p.Lys118Arg
ENST00000575659.5:c.353A>G
ENSP00000459119.1:p.Lys118Arg
ENST00000570382.1:c.339+14A>G

About this variant

This variant overlaps 38 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays