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 14:23428583 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM992933 ; PhenCode FHC0131 (C/T)

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_020806

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

About this variant

This variant overlaps 2 transcripts, has 264 sample genotypes and is associated with 1 phenotype.

Variant displays