Original source

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

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

Chromosome 1:209650023 (forward strand) | View in location tab


with HGMD-PUBLIC CM950743

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays