Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

Chromosome 12:40310434 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM044901, CM043518

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_HumanOmni1-Quad

About this variant

This variant overlaps 8 transcripts, has 2 sample genotypes, is associated with 5 phenotypes and is mentioned in 5 citations.

Variant displays