Original source

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

G/T | Ancestral: G | Ambiguity code: K | MAF: < 0.01 (T)

Chromosome 12:40284011 (forward strand) | View in location tab


with HGMD-PUBLIC CM056640

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ImmunoChip, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, has 2506 sample genotypes, is associated with 1 phenotype and is mentioned in 2 citations.

Variant displays