Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 12:110919145 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4038693 ; HGMD-PUBLIC CM981331 ; PhenCode FHC0202 (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays