Overview

Variant ID 5210
Entrez Gene ID 57633
Gene LRRN1 (GeneCards)
Location hg19 3:4024136-4024136
hg38 3:3982452-3982452
Disease
Method HiSeq X Ten
Mutation(HGVS format) NC_000003.11:g.4024136 C>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 198022430

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.0803
CADD Raw score (version 1.3) 0.262715 (Deleterious)
FATHMM raw prediction score 0.89543 (Tolerated)
Deleterious probability by DeFine 0.3467 (Neutral)
Entrez Gene ID 57633 (NCBI Gene)
Official Gene Symbol LRRN1 (GeneCards)
Number of variants in LRRN1 in this database 10 (view all the variants)
Full name leucine rich repeat neuronal 1
Band 3p26.2
Other IDs Vega: OTTHUMG00000154934
HGNC: HGNC:20980
Ensembl: ENSG00000175928
Other names NLRR-1, FIGLER3
Summary None

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;