Original source

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

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

Chromosome 14:23428583 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM992933 ; PhenCode FHC0131 (C/T)

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_020806

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 2 transcripts, has 264 sample genotypes and is associated with 1 phenotype.

Variant displays