Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 HGVS names - click the plus to show

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

About this variant

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

Variant displays