Original source

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

C/A | Ancestral: A | Ambiguity code: M | MAF: 0.20 (C)

Chromosome 4:38797027 (forward strand) | View in location tab


with COSMIC COSM3760608 (C/A) ; HGMD-PUBLIC CM073378

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts, has 2557 sample genotypes, is associated with 2 phenotypes and is mentioned in 35 citations.

Variant displays