| Variant ID | 20340 |
|---|---|
| Entrez Gene ID | 56907 |
| Gene | SPIRE1 (GeneCards) |
| Location | hg19 18:12603777-12603777
hg38 18:12603778-12603778 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.12603777 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3527 |
| CADD Raw score (version 1.3) | -0.123477 (Deleterious) |
| FATHMM raw prediction score | 0.07128 (Tolerated) |
| Deleterious probability by DeFine | 0.134 (Neutral) |
| Entrez Gene ID | 56907 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPIRE1 (GeneCards) |
| Number of variants in SPIRE1 in this database | 2 (view all the variants) |
| Full name | spire type actin nucleation factor 1 |
| Band | 18p11.21 |
| Other IDs | Vega: OTTHUMG00000153940 OMIM: 609216 HGNC: HGNC:30622 Ensembl: ENSG00000134278 |
| Other names | Spir-1 |
| Summary | Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008] |
| Individual ID | 29217584.08 (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; |