Original source

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

Alleles
C/A/T | Ancestral: C | Ambiguity code: H
Location

Chromosome 1:229432393 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM034500, CM992122, CM992121 ; PhenCode ACTA1:c.493G>A (C/T), ACTA1:c.493G>T (C/A), ACTA1:c.493G>C (C/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Archive dbSNP rs121909532

This variant has 8 HGVS names - click the plus to show

Variant allele A
1:g.229432393C>A
ENST00000366683.3:c.479+14G>T
ENST00000366684.7:c.493G>T
ENSP00000355645.3:p.Val165Leu

Variant allele T
1:g.229432393C>T
ENST00000366683.3:c.479+14G>A
ENST00000366684.7:c.493G>A
ENSP00000355645.3:p.Val165Met

About this variant

This variant overlaps 4 transcripts and is associated with 4 phenotypes.

Variant displays