Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 18:23536736 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3524491 ; HGMD-PUBLIC CM990946

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15113, NM_000271.3:c.3182T>C

HGVS names

This variant has 6 HGVS names - Hide

18:g.23536736A>G
ENST00000269228.9:c.3182T>C
ENSP00000269228.4:p.Ile1061Thr
ENST00000591051.1:c.2260T>C
ENSP00000467636.1:p.Ile754Thr
ENST00000591955.1:n.525T>C

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 20 transcripts, is associated with 2 phenotypes and is mentioned in 3 citations.

Variant displays