| Variant ID | 4615 |
|---|---|
| Entrez Gene ID | 8997 |
| Gene | KALRN (GeneCards) |
| Location | hg19 3:123972640-123972640
hg38 3:124253793-124253793 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.123972640 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 | 0.162 |
| CADD Raw score (version 1.3) | 0.396885 (Deleterious) |
| FATHMM raw prediction score | 0.26106 (Tolerated) |
| Deleterious probability by DeFine | 0.4584 (Neutral) |
| 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 | 29217584.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |