Original source

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

C/A/T|Ancestral: C|Ambiguity code: H

Chromosome 14:23429278 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM900168, CM930503 ; PhenCode FHC0119 (C/A), FHC0117 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 7 phenotypes.

Variant displays