Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S|MAF: < 0.01 (C)
Location

Chromosome 18:23538564 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM992942

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_000271.3:c.3019C>G, 15115

HGVS names

This variant has 7 HGVS names - Hide

18:g.23538564G>C
ENST00000591075.1:n.652C>G
ENST00000591955.1:n.362C>G
ENST00000269228.9:c.3019C>G
ENSP00000269228.4:p.Pro1007Ala
ENST00000591051.1:c.2097C>G
ENSP00000467636.1:p.Pro700Ala

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 3 citations.

Variant displays