| Variant ID | 1416 |
|---|---|
| Entrez Gene ID | 3884 |
| Gene | KRT33B (GeneCards) |
| Location | hg19 17:39525727-39525727
hg38 17:41369475-41369475 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000017.10:g.39525727_39525727 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_002279.4 |
| mRNA length | 1626 |
| Reference length | 81195210 |
| Deleterious probability by DeFine | 0.8513 (Deleterious) |
|---|
| Entrez Gene ID | 3884 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KRT33B (GeneCards) |
| Number of variants in KRT33B in this database | 2 (view all the variants) |
| Full name | keratin 33B |
| Band | 17q21.2 |
| Other IDs | Vega: OTTHUMG00000133429 OMIM: 602762 HGNC: HGNC:6451 Ensembl: ENSG00000131738 |
| Other names | K33B, HA3II, Ha-3II, KRTHA3A, KRTHA3B, hHa3-II |
| Summary | This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012] |
| Individual ID | 28867142.33 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |