Original source

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

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

Chromosome 14:23424839 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM952025 ; PhenCode FHC0175 (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 2 sample genotypes and is associated with 5 phenotypes.

Variant displays