Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

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


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

Most severe consequence
Evidence status

Clinical significance


Uniprot VAR_004591

This variation has 6 HGVS names - click the plus to show

Genotyping chips

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

About this variant

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

Variation displays