Overview

Variant ID 19835
Entrez Gene ID 114881
Gene OSBPL7 (GeneCards)
Location hg19 17:45889830-45889830
hg38 17:47812464-47812464
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000017.10:g.45889830 T>C (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 81195210

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2818
CADD Raw score (version 1.3) -0.443752 (Deleterious)
FATHMM raw prediction score 0.14373 (Tolerated)
Deleterious probability by DeFine 0.6032 (Deleterious)
Entrez Gene ID 114881 (NCBI Gene)
Official Gene Symbol OSBPL7 (GeneCards)
Number of variants in OSBPL7 in this database 2 (view all the variants)
Full name oxysterol binding protein like 7
Band 17q21.32
Other IDs Vega: OTTHUMG00000178288
OMIM: 606735
HGNC: HGNC:16387
Ensembl: ENSG00000006025
Other names ORP7
Summary This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217584.05 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;