| Variant ID | 928 |
|---|---|
| Entrez Gene ID | 374308 |
| Gene | PTCHD3 (GeneCards) |
| Location | hg19 10:27702652-27702652
hg38 10:27413723-27413723 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000010.10:g.27702652 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 176 |
| Amino acid changes in protein | S > S |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5659 |
| CADD Raw score (version 1.3) | 0.508489 (Deleterious) |
| FATHMM raw prediction score | 0.82361 (Tolerated) |
| Deleterious probability by DeFine | 0.9077 (Deleterious) |
| Entrez Gene ID | 374308 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTCHD3 (GeneCards) |
| Number of variants in PTCHD3 in this database | 3 (view all the variants) |
| Full name | patched domain containing 3 |
| Band | 10p12.1 |
| Other IDs | Vega: OTTHUMG00000017860 OMIM: 611791 HGNC: HGNC:24776 Ensembl: ENSG00000182077 |
| Other names | PTR |
| Summary | None |
| 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; |