Original source

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

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

Chromosome 14:23425316 (forward strand) | View in location tab


with HGMD-PUBLIC CM066923, CM950825 ; PhenCode FHC0171 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, HumanCoreExome-12

About this variant

This variant overlaps 2 transcripts, has 515 sample genotypes and is associated with 4 phenotypes.

Variant displays