| Variant ID | 10968 |
|---|---|
| Entrez Gene ID | 140545 |
| Gene | RNF32 (GeneCards) |
| Location | hg19 7:156471458-156471458
hg38 7:156678764-156678764 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.156471458 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.103 |
| CADD Raw score (version 1.3) | 0.252979 (Deleterious) |
| FATHMM raw prediction score | 0.14489 (Tolerated) |
| Deleterious probability by DeFine | 0.2434 (Neutral) |
| Entrez Gene ID | 140545 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RNF32 (GeneCards) |
| Number of variants in RNF32 in this database | 2 (view all the variants) |
| Full name | ring finger protein 32 |
| Band | 7q36.3 |
| Other IDs | Vega: OTTHUMG00000151440 OMIM: 610241 HGNC: HGNC:17118 Ensembl: ENSG00000105982 |
| Other names | HSD15, LMBR2, FKSG33 |
| Summary | The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015] |
| Individual ID | 29217584.11 (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; |