This variant has been flagged

Variation has more than 3 different alleles

Original source

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

C/A/G/T | Ancestral: C | Ambiguity code: N | MAF: < 0.01 (A)

Chromosome 16:56869762 (forward strand) | View in location tab


with HGMD-PUBLIC CM001789, CD116991

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_039487

HGVS names

This variant has 27 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 15 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays