Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 12754, NM_000553.4:c.1105C>T

This variation has 6 HGVS names - click the plus to show

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 variation has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, has 1 individual genotype, is associated with 2 phenotypes and is mentioned in 1 citation.

Variation displays