| Variant ID | 1038 |
|---|---|
| Entrez Gene ID | 8689 |
| Gene | KRT36 (GeneCards) |
| Location | hg19 17:39643399-39643399
hg38 17:41487147-41487147 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.39643399 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 337 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.582 |
| CADD Raw score (version 1.3) | 0.450419 (Deleterious) |
| FATHMM raw prediction score | 0.9489 (Tolerated) |
| Deleterious probability by DeFine | 0.9328 (Deleterious) |
| Entrez Gene ID | 8689 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KRT36 (GeneCards) |
| Number of variants in KRT36 in this database | 1 (view all the variants) |
| Full name | keratin 36 |
| Band | 17q21.2 |
| Other IDs | Vega: OTTHUMG00000133431 OMIM: 604540 HGNC: HGNC:6454 Ensembl: ENSG00000126337 |
| Other names | HA6, hHa6, KRTHA6 |
| Summary | The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |