Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to 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