Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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
Evidence status

Clinical significance


Uniprot VAR_051421

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

Genotyping chips

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

About this variant

This variant overlaps 21 transcripts, has 1093 individual genotypes and is associated with 2 phenotypes.

Variation displays