| Variant ID | 22306 |
|---|---|
| Entrez Gene ID | 139411 |
| Gene | PTCHD1 (GeneCards) |
| Location | hg19 X:23549356-23549356
hg38 X:23531239-23531239 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.23549356 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.19463 (Deleterious) |
| FATHMM raw prediction score | 0.06828 (Tolerated) |
| Deleterious probability by DeFine | 0.1438 (Neutral) |
| Entrez Gene ID | 139411 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTCHD1 (GeneCards) |
| Number of variants in PTCHD1 in this database | 2 (view all the variants) |
| Full name | patched domain containing 1 |
| Band | Xp22.11 |
| Other IDs | Vega: OTTHUMG00000021251 OMIM: 300828 HGNC: HGNC:26392 Ensembl: ENSG00000165186 |
| Other names | AUTSX4 |
| Summary | This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |