Original source

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

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

Chromosome 8:132923397 (forward strand) | View in location tab


with COSMIC COSM3785870 (C/T) ; HGMD-PUBLIC CM930703

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 5576

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 3 transcripts and is associated with 2 phenotypes.

Variant displays