Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 17:39665921 (forward strand) | View in location tab


with HGMD-PUBLIC CM091459 ; PhenCode TCAP:c.316C>T (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


Uniprot VAR_051421

This variant has 8 HGVS names - click the plus to show

Genotyping chips

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

About this variant

This variant overlaps 20 transcripts, 1 regulatory feature, has 2505 sample genotypes and is associated with 2 phenotypes.

Variant displays