Original source

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

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

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

Co-located variants

COSMIC COSM3785870 ; HGMD-PUBLIC CM930703

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

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