Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H|MAF: 0.01 (T)
Location

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

Co-located variants

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_051421

HGVS names

This variant has 16 HGVS names - Show

Genotyping chips

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

About this variant

This variant overlaps 40 transcripts, 1 regulatory feature, has 2505 sample genotypes and is associated with 2 phenotypes.

Variant displays