Original source

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

C/G/T | Ancestral: C | Ambiguity code: B

Chromosome 16:50711057 (forward strand) | View in location tab


with COSMIC COSM971299 (C/T) ; HGMD-PUBLIC CM050186

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 22 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays