Original source

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

G/A/T | Ancestral: G | Ambiguity code: D

Chromosome 2:208124294 (forward strand) | View in location tab


with HGMD-PUBLIC CM020930, CM072969

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

About this variant

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

Variant displays