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 18:23539393 (forward strand) | View in location tab

Co-located

with COSMIC COSM3403468 (C/T) ; HGMD-PUBLIC CM015186, CM020045

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15114

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

18:g.23539393C>T
ENST00000591075.1:n.506G>A
ENST00000269228.9:c.2873G>A
ENSP00000269228.4:p.Arg958Gln
ENST00000591051.1:c.1951G>A
ENSP00000467636.1:p.Arg651Gln

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays