Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)

Chromosome 16:56913293 (forward strand) | View in location tab


with HGMD-PUBLIC CM021336

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_039540

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays