Original source

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

A/G | Ancestral: A | Ambiguity code: R | MAF: < 0.01 (G)

Chromosome 12:40308618 (forward strand) | View in location tab


with HGMD-PUBLIC CM053301

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 5 transcripts, has 2773 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays