Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 1:229432393 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM034500, CM992122, CM992121 ; PhenCode ACTA1:c.493G>C (C/G), ACTA1:c.493G>T (C/A), ACTA1:c.493G>A (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Archive dbSNP rs121909532

HGVS names

This variant has 14 HGVS names - Hide

Variant allele A
1:g.229432393C>A
ENST00000366683.3:c.479+14G>T
ENST00000366684.7:c.493G>T
ENSP00000355645.3:p.Val165Leu
LRG_429:g.6704G>T
LRG_429t1:c.493G>T
LRG_429p1:p.Val165Leu

Variant allele T
1:g.229432393C>T
ENST00000366683.3:c.479+14G>A
ENST00000366684.7:c.493G>A
ENSP00000355645.3:p.Val165Met
LRG_429:g.6704G>A
LRG_429t1:c.493G>A
LRG_429p1:p.Val165Met

About this variant

This variant overlaps 6 transcripts and is associated with 4 phenotypes.

Variant displays