Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 1:229432020 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM992126 ; PhenCode ACTA1:c.782A>T (T/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 7 HGVS names - Hide

1:g.229432020T>A
ENST00000366683.3:c.480-158A>T
ENST00000366684.7:c.782A>T
ENSP00000355645.3:p.Glu261Val
LRG_429:g.7077A>T
LRG_429t1:c.782A>T
LRG_429p1:p.Glu261Val

About this variant

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

Variant displays