Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: < 0.01 (A)
Location

Chromosome 15:45109895 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3420336 ; HGMD-PUBLIC CM053838

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 14080

HGVS names

This variant has 6 HGVS names - Hide

15:g.45109895G>A
ENST00000389039.10:c.1126C>T
ENSP00000373691.6:p.Arg376Trp
ENST00000558383.1:n.1457C>T
ENST00000603300.1:c.1126C>T
ENSP00000475084.1:p.Arg376Trp

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 6 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays