| Variant ID | 30967 |
|---|---|
| Entrez Gene ID | 5727 |
| Gene | PTCH1 (GeneCards) |
| Location | hg19 9:98231135-98231135
hg38 9:95468853-95468853 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000009.11:g.98231135 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 716 |
| Amino acid changes in protein | S > S |
| Position in cDNA | 2148 |
| Changes in cDNA | C > T |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0.0003 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs148417764 |
| Variant IDs in COSMIC (version 89) | 5467786 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | -0.2464 |
| CADD Raw score (version 1.3) | 1.130543 (Deleterious) |
| FATHMM raw prediction score | 0.08802 (Tolerated) |
| Deleterious probability by DeFine | 0.8552 (Deleterious) |
| Entrez Gene ID | 5727 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTCH1 (GeneCards) |
| Number of variants in PTCH1 in this database | 32 (view all the variants) |
| Full name | patched 1 |
| Band | 9q22.32 |
| Other IDs | Vega: OTTHUMG00000020280 OMIM: 601309 HGNC: HGNC:9585 Ensembl: ENSG00000185920 |
| Other names | PTC, BCNS, PTC1, PTCH, NBCCS |
| Summary | This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017] |
| Individual ID | 25999502.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |