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 1:229433109 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3385880 ; HGMD-PUBLIC CM042925 ; PhenCode ACTA1:c.7G>T (C/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 8 HGVS names - Hide

1:g.229433109C>A
ENST00000366683.3:c.7G>T
ENSP00000355644.3:p.Asp3Tyr
ENST00000366684.7:c.7G>T
ENSP00000355645.3:p.Asp3Tyr
LRG_429:g.5988G>T
LRG_429t1:c.7G>T
LRG_429p1:p.Asp3Tyr

About this variant

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

Variant displays