Original source

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

with HGMD-PUBLIC CM992942

Most severe consequence
Evidence status

Clinical significance

Synonyms

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

This variation has 7 HGVS names - click the plus to show

18:g.23538564G>C
ENST00000591075.1:n.652C>G
ENST00000269228.8:c.3019C>G
ENSP00000269228.4:p.Pro1007Ala
ENST00000591955.1:n.362C>G
ENST00000591051.1:c.2097C>G
ENSP00000467636.1:p.Pro700Ala

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts, has 2504 individual genotypes, is associated with 1 phenotype and is mentioned in 3 citations.

Variation displays