| Variant ID | 5890 |
|---|---|
| Entrez Gene ID | 348808 |
| Gene | NPHP3-AS1 (GeneCards) |
| Location | hg19 3:132600611-132600611
hg38 3:132881767-132881767 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.132600611 C>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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0.4774 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs6763530 |
| EIGEN score | -0.4506 |
| CADD Raw score (version 1.3) | -0.211884 (Deleterious) |
| FATHMM raw prediction score | 0.08276 (Tolerated) |
| Deleterious probability by DeFine | 0.4806 (Neutral) |
| Entrez Gene ID | 348808 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NPHP3-AS1 (GeneCards) |
| Number of variants in NPHP3-AS1 in this database | 4 (view all the variants) |
| Full name | NPHP3 antisense RNA 1 |
| Band | 3q22.1 |
| Other IDs | HGNC: HGNC:24129 Ensembl: ENSG00000248724 |
| Other names | NCRNA00119 |
| Summary | None |
| Individual ID | 29217584.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |