Original source

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

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

Chromosome 7:44147830 (forward strand) | View in location tab


with HGMD-PUBLIC CM920305, CM096860, CM032577

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 11 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, is associated with 5 phenotypes and is mentioned in 2 citations.

Variant displays