Original source

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

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

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

Co-located variants

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

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

About this variant

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

Variant displays