Original source

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

G/A/C | Ancestral: G | Ambiguity code: V

Chromosome 18:31592974 (forward strand) | View in location tab


with HGMD-PUBLIC CM098273, CM920684, CM870020

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 24 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, is associated with 5 phenotypes and is mentioned in 2 citations.

Variant displays