| Variant ID | 15430 |
|---|---|
| Entrez Gene ID | 10418 |
| Gene | SPON1 (GeneCards) |
| Location | hg19 11:14178990-14178990
hg38 11:14157444-14157444 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.14178990 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.00009696 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs188313132 |
| EIGEN score | -0.308 |
| CADD Raw score (version 1.3) | -0.179533 (Deleterious) |
| FATHMM raw prediction score | 0.08325 (Tolerated) |
| Deleterious probability by DeFine | 0.2143 (Neutral) |
| Entrez Gene ID | 10418 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPON1 (GeneCards) |
| Number of variants in SPON1 in this database | 5 (view all the variants) |
| Full name | spondin 1 |
| Band | 11p15.2 |
| Other IDs | Vega: OTTHUMG00000181576 OMIM: 604989 HGNC: HGNC:11252 Ensembl: ENSG00000262655 |
| Other names | f-spondin, VSGP/F-spondin |
| Summary | None |
| Individual ID | 29217584.10 (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; |