Original source

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

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

Chromosome 7:143330868 (forward strand) | View in location tab


with HGMD-PUBLIC CM076104, CM950267

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays