| Variant ID | 27373 |
|---|---|
| Entrez Gene ID | 10418 |
| Gene | SPON1 (GeneCards) |
| Location | hg19 11:14262777-14262777
hg38 11:14241231-14241231 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000011.9:g.14262777 T>C (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 |
|---|---|
| EIGEN score | 0.0718 |
| CADD Raw score (version 1.3) | 0.089921 (Deleterious) |
| FATHMM raw prediction score | 0.16374 (Tolerated) |
| Deleterious probability by DeFine | 0.3885 (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 | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |