Overview

Variant ID 20224
Entrez Gene ID 101927571
Gene LOC101927571 (GeneCards)
Location hg19 18:20404747-20404747
hg38 18:22824784-22824784
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000018.9:g.20404747 A>G (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 78077248

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.0584
CADD Raw score (version 1.3) 0.154097 (Deleterious)
FATHMM raw prediction score 0.17239 (Tolerated)
Deleterious probability by DeFine 0.2924 (Neutral)
Entrez Gene ID 101927571 (NCBI Gene)
Official Gene Symbol LOC101927571 (GeneCards)
Number of variants in LOC101927571 in this database 2 (view all the variants)
Full name uncharacterized LOC101927571
Band 18q11.2
Other IDs Ensembl: ENSG00000266850
Other names None
Summary None

Individual #1

Individual ID 29217584.03 (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;