| Variant ID | 16775 |
|---|---|
| Entrez Gene ID | 374462 |
| Gene | PTPRQ (GeneCards) |
| Location | hg19 12:81057095-81057095
hg38 12:80663316-80663316 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.81057095 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3407 |
| CADD Raw score (version 1.3) | 0.026167 (Deleterious) |
| FATHMM raw prediction score | 0.04897 (Tolerated) |
| Deleterious probability by DeFine | 0.4449 (Neutral) |
| Entrez Gene ID | 374462 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTPRQ (GeneCards) |
| Number of variants in PTPRQ in this database | 4 (view all the variants) |
| Full name | protein tyrosine phosphatase, receptor type Q |
| Band | 12q21.31 |
| Other IDs | Vega: OTTHUMG00000170171 OMIM: 603317 HGNC: HGNC:9679 Ensembl: ENSG00000139304 |
| Other names | DFNA73, DFNB84, DFNB84A, PTPGMC1, R-PTP-Q |
| Summary | This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014] |
| Individual ID | 29217584.14 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |