Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 1:229432723 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM992118 ; PhenCode ACTA1:c.287T>C (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 8 HGVS names - Hide

1:g.229432723A>G
ENST00000366683.3:c.287T>C
ENSP00000355644.3:p.Leu96Pro
ENST00000366684.7:c.287T>C
ENSP00000355645.3:p.Leu96Pro
LRG_429:g.6374T>C
LRG_429t1:c.287T>C
LRG_429p1:p.Leu96Pro

About this variant

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

Variant displays