Original source

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

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

Chromosome 10:71712737 (forward strand) | View in location tab


with HGMD-PUBLIC CM082525

Most severe consequence
Missense variant
Evidence status

Clinical significance


Uniprot VAR_046411

HGVS names

This variant has 16 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature, has 2506 sample genotypes and is associated with 2 phenotypes.

Variant displays