Original source

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

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

Chromosome 3:8745788 (forward strand) | View in location tab


with COSMIC COSM94009 (G/A) ; HGMD-PUBLIC CM010790 ; PhenCode CAV3:c.377G>A (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 7 transcripts, is associated with 1 phenotype and is mentioned in 2 citations.

Variant displays