Original source

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

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 8:31081132 (forward strand) | View in location tab


with COSMIC COSM3899638 (C/T) ; HGMD-PUBLIC CM961463

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 2 transcripts, 1 regulatory feature, has 1 sample genotype, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays