Original source

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

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 14:23431468 (forward strand) | View in location tab


with COSMIC COSM954783 (C/T) ; HGMD-PUBLIC CM910268 ; PhenCode FHC0111 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 2 transcripts, has 263 sample genotypes and is associated with 5 phenotypes.

Variant displays