Original source

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

T/C | Ancestral: C | Ambiguity code: Y | MAF: 0.02 (T)

Chromosome 5:74685445 (forward strand) | View in location tab


with COSMIC COSM450042 (T/C) ; HGMD-PUBLIC CM952225

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 3186 sample genotypes and is associated with 4 phenotypes.

Variant displays