| Variant ID | 16736 |
|---|---|
| Entrez Gene ID | 3889 |
| Gene | KRT83 (GeneCards) |
| Location | hg19 12:52741534-52741534
hg38 12:52347750-52347750 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.52741534 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1618 |
| CADD Raw score (version 1.3) | -0.096115 (Deleterious) |
| FATHMM raw prediction score | 0.1224 (Tolerated) |
| Deleterious probability by DeFine | 0.3402 (Neutral) |
| Entrez Gene ID | 3889 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KRT83 (GeneCards) |
| Number of variants in KRT83 in this database | 2 (view all the variants) |
| Full name | keratin 83 |
| Band | 12q13.13 |
| Other IDs | Vega: OTTHUMG00000169632 OMIM: 602765 HGNC: HGNC:6460 Ensembl: ENSG00000170523 |
| Other names | HB3, Hb-3, EKVP5, MNLIX, KRTHB3 |
| Summary | The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.13 (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; |