Overview

Variant ID 23813
Entrez Gene ID 57617
Gene VPS18 (GeneCards)
Location hg19 15:41192288-41192288
hg38 15:40900090-40900090
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000015.9:g.41192288 G>A (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 102531392

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0.00003232
EIGEN score 0.0244
CADD Raw score (version 1.3) 0.409705 (Deleterious)
FATHMM raw prediction score 0.29497 (Tolerated)
Deleterious probability by DeFine 0.9112 (Deleterious)
Entrez Gene ID 57617 (NCBI Gene)
Official Gene Symbol VPS18 (GeneCards)
Number of variants in VPS18 in this database 3 (view all the variants)
Full name VPS18, CORVET/HOPS core subunit
Band 15q15.1
Other IDs Vega: OTTHUMG00000130135
OMIM: 608551
HGNC: HGNC:15972
Ensembl: ENSG00000104142
Other names PEP3
Summary Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217587.01 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217587

Pubmed ID 29217587
Title Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.
Journal Science
Publication date 2018.02
Disease Asymptomatic
Number of cases cases of unknown sex: 3;