| Variant ID | 21542 |
|---|---|
| Entrez Gene ID | 9777 |
| Gene | TM9SF4 (GeneCards) |
| Location | hg19 20:30756607-30756607
hg38 20:32168804-32168804 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.30756607 G>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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5283 |
| CADD Raw score (version 1.3) | 1.071002 (Deleterious) |
| FATHMM raw prediction score | 0.72659 (Tolerated) |
| Deleterious probability by DeFine | 0.0796 (Neutral) |
| Entrez Gene ID | 9777 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TM9SF4 (GeneCards) |
| Number of variants in TM9SF4 in this database | 2 (view all the variants) |
| Full name | transmembrane 9 superfamily member 4 |
| Band | 20q11.21 |
| Other IDs | Vega: OTTHUMG00000032206 OMIM: 617727 HGNC: HGNC:30797 Ensembl: ENSG00000101337 |
| Other names | dJ836N17.2 |
| Summary | None |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |