| Variant ID | 4269 |
|---|---|
| Entrez Gene ID | 5746 |
| Gene | PTH2R (GeneCards) |
| Location | hg19 2:209962266-209962266
hg38 2:209097542-209097542 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.209962266 A>T (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1921 |
| CADD Raw score (version 1.3) | -0.021563 (Deleterious) |
| FATHMM raw prediction score | 0.19935 (Tolerated) |
| Deleterious probability by DeFine | 0.0583 (Neutral) |
| Entrez Gene ID | 5746 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTH2R (GeneCards) |
| Number of variants in PTH2R in this database | 13 (view all the variants) |
| Full name | parathyroid hormone 2 receptor |
| Band | 2q34 |
| Other IDs | Vega: OTTHUMG00000132960 OMIM: 601469 HGNC: HGNC:9609 Ensembl: ENSG00000144407 |
| Other names | PTHR2 |
| Summary | The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] |
| Individual ID | 29217584.16 (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; |