Original source

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

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

Chromosome 3:128807627 (forward strand) | View in location tab


with HGMD-PUBLIC CM030708 ; PhenCode IPNMDB_637 (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays