| Variant ID | 10412 |
|---|---|
| Entrez Gene ID | 23165 |
| Gene | NUP205 (GeneCards) |
| Location | hg19 7:135328760-135328760
hg38 7:135644012-135644012 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.135328760 C>G (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 | 0.1557 |
| CADD Raw score (version 1.3) | 0.216988 (Deleterious) |
| FATHMM raw prediction score | 0.19007 (Tolerated) |
| Deleterious probability by DeFine | 0.4737 (Neutral) |
| Entrez Gene ID | 23165 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NUP205 (GeneCards) |
| Number of variants in NUP205 in this database | 5 (view all the variants) |
| Full name | nucleoporin 205 |
| Band | 7q33 |
| Other IDs | Vega: OTTHUMG00000155497 OMIM: 614352 HGNC: HGNC:18658 Ensembl: ENSG00000155561 |
| Other names | NPHS13, C7orf14 |
| Summary | This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016] |
| Individual ID | 29217584.03 (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; |