| Variant ID | 21499 |
|---|---|
| Entrez Gene ID | 391253 |
| Gene | SPINT4 (GeneCards) |
| Location | hg19 20:44387611-44387611
hg38 20:45758972-45758972 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.44387611 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.265 |
| CADD Raw score (version 1.3) | 0.266699 (Deleterious) |
| FATHMM raw prediction score | 0.10796 (Tolerated) |
| Deleterious probability by DeFine | 0.088 (Neutral) |
| Entrez Gene ID | 391253 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPINT4 (GeneCards) |
| Number of variants in SPINT4 in this database | 1 (view all the variants) |
| Full name | serine peptidase inhibitor, Kunitz type 4 |
| Band | 20q13.12 |
| Other IDs | Vega: OTTHUMG00000130153 HGNC: HGNC:16130 Ensembl: ENSG00000149651 |
| Other names | SPINT3, C20orf137, dJ601O1.1 |
| Summary | None |
| 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; |