Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)

Chromosome 17:7285140 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_020336

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

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

About this variant

This variant overlaps 11 transcripts, has 2506 sample genotypes and is mentioned in 2 citations.

Variant displays