| Variant ID | 4358 |
|---|---|
| Entrez Gene ID | 6694 |
| Gene | SPP2 (GeneCards) |
| Location | hg19 2:235304687-235304687
hg38 2:234396043-234396043 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.235304687 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3773 |
| CADD Raw score (version 1.3) | 0.166026 (Deleterious) |
| FATHMM raw prediction score | 0.07126 (Tolerated) |
| Deleterious probability by DeFine | 0.5737 (Deleterious) |
| Entrez Gene ID | 6694 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPP2 (GeneCards) |
| Number of variants in SPP2 in this database | 6 (view all the variants) |
| Full name | secreted phosphoprotein 2 |
| Band | 2q37.1 |
| Other IDs | Vega: OTTHUMG00000059208 OMIM: 602637 HGNC: HGNC:11256 Ensembl: ENSG00000072080 |
| Other names | SPP24, SPP-24 |
| Summary | This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008] |
| Individual ID | 29217584.19 (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; |