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

Co-located variants

COSMIC COSM3899638 ; HGMD-PUBLIC CM961463

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Hide

8:g.31081132C>T
ENST00000298139.5:c.1105C>T
ENSP00000298139.5:p.Arg369Ter
LRG_524:g.52871C>T
LRG_524t1:c.1105C>T
LRG_524p1:p.Arg369Ter

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