Overview

Variant ID 2295
Entrez Gene ID 101929184
Gene LINC01031 (GeneCards)
Location hg19 1:194851296-194851296
hg38 1:194882166-194882166
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000001.10:g.194851296 G>T (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 249250621

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3028
CADD Raw score (version 1.3) -0.449233 (Deleterious)
FATHMM raw prediction score 0.06529 (Tolerated)
Deleterious probability by DeFine 0.3601 (Neutral)
Entrez Gene ID 101929184 (NCBI Gene)
Official Gene Symbol LINC01031 (GeneCards)
Number of variants in LINC01031 in this database 26 (view all the variants)
Full name long intergenic non-protein coding RNA 1031
Band 1q31.2
Other IDs HGNC: HGNC:49017
Ensembl: ENSG00000232077
Other names TCONS_00000361
Summary None

Individual #1

Individual ID 29217584.12 (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;