| Variant ID | 20223 |
|---|---|
| Entrez Gene ID | 125336 |
| Gene | LOXHD1 (GeneCards) |
| Location | hg19 18:44212610-44212610
hg38 18:46632647-46632647 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.44212610 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.576 |
| CADD Raw score (version 1.3) | 0.234439 (Deleterious) |
| FATHMM raw prediction score | 0.26506 (Tolerated) |
| Deleterious probability by DeFine | 0.9165 (Deleterious) |
| Entrez Gene ID | 125336 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LOXHD1 (GeneCards) |
| Number of variants in LOXHD1 in this database | 3 (view all the variants) |
| Full name | lipoxygenase homology domains 1 |
| Band | 18q21.1 |
| Other IDs | Vega: OTTHUMG00000132644 OMIM: 613072 HGNC: HGNC:26521 Ensembl: ENSG00000167210 |
| Other names | LH2D1, DFNB77 |
| Summary | This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010] |
| Individual ID | 29217584.03 (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; |