Original source

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

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

Chromosome 8:133017940 (forward strand) | View in location tab


with HGMD-PUBLIC CM032036

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, has 2 sample genotypes and is associated with 2 phenotypes.

Variant displays