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 1:229431830 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM043254 ; PhenCode ACTA1:c.881A>T (T/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_001100.3:c.881A>T

HGVS names

This variant has 8 HGVS names - Hide

1:g.229431830T>A
ENST00000366683.3:c.512A>T
ENSP00000355644.3:p.Asp171Val
ENST00000366684.7:c.881A>T
ENSP00000355645.3:p.Asp294Val
LRG_429:g.7267A>T
LRG_429t1:c.881A>T
LRG_429p1:p.Asp294Val

About this variant

This variant overlaps 3 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays