Original source

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

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

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


with HGMD-PUBLIC CM044901, CM043518

Most severe consequence
Missense variant
Evidence status

Clinical significance


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 4 phenotypes and is mentioned in 5 citations.

Variant displays