Original source

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

C/G | Ancestral: C | Ambiguity code: S

Chromosome 1:229433067 (forward strand) | View in location tab


with HGMD-PUBLIC CM992116 ; PhenCode ACTA1:c.49G>C (C/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 8 HGVS names - Show

About this variant

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

Variant displays