Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 1:229431994 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1339913 ; HGMD-PUBLIC CX095261, CM034511, CM012325, CM045914 ; PhenCode ACTA1:c.808G>T (C/A), ACTA1:c.808G>C (C/G), ACTA1:c.808G>A (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 7 HGVS names - Hide

1:g.229431994C>A
ENST00000366683.3:c.480-132G>T
ENST00000366684.7:c.808G>T
ENSP00000355645.3:p.Gly270Cys
LRG_429:g.7103G>T
LRG_429t1:c.808G>T
LRG_429p1:p.Gly270Cys

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays