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 12:110914287 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981332 ; PhenCode FHC0211 (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

About this variant

This variant overlaps 5 transcripts, is associated with 4 phenotypes and is mentioned in 5 citations.

Variant displays