Original source

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

A/C/G | Ancestral: A | Ambiguity code: V | MAF: 0.04 (C)

Chromosome 12:10118488 (forward strand) | View in location tab


with HGMD-PUBLIC CM094546

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 34 HGVS names - Show

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 22 transcripts, has 3775 sample genotypes, is associated with 3 phenotypes and is mentioned in 9 citations.

Variant displays