| Variant ID | 5881 |
|---|---|
| Entrez Gene ID | 8997 |
| Gene | KALRN (GeneCards) |
| Location | hg19 3:124147340-124147340
hg38 3:124428493-124428493 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.124147340 G>A (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 | 0.3456 |
| CADD Raw score (version 1.3) | 0.31211 (Deleterious) |
| FATHMM raw prediction score | 0.18446 (Tolerated) |
| Deleterious probability by DeFine | 0.5226 (Deleterious) |
| Entrez Gene ID | 8997 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KALRN (GeneCards) |
| Number of variants in KALRN in this database | 9 (view all the variants) |
| Full name | kalirin RhoGEF kinase |
| Band | 3q21.1-q21.2 |
| Other IDs | Vega: OTTHUMG00000125545 OMIM: 604605 HGNC: HGNC:4814 Ensembl: ENSG00000160145 |
| Other names | DUO, CHD5, DUET, TRAD, CHDS5, HAPIP, ARHGEF24 |
| Summary | Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016] |
| Individual ID | 29217584.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |