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) |
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 |
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 |
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; |