| Variant ID | 27141 |
|---|---|
| Entrez Gene ID | 374308 |
| Gene | PTCHD3 (GeneCards) |
| Location | hg19 10:27726187-27726187
hg38 10:27437258-27437258 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000010.10:g.27726187 A>G (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3573 |
| CADD Raw score (version 1.3) | -0.069182 (Deleterious) |
| FATHMM raw prediction score | 0.06635 (Tolerated) |
| Deleterious probability by DeFine | 0.0903 (Neutral) |
| 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 | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |