| Variant ID | 14946 |
|---|---|
| Entrez Gene ID | 83641 |
| Gene | FAM107B (GeneCards) |
| Location | hg19 10:14757690-14757690
hg38 10:14715691-14715691 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.14757690 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0.0036 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs188774005 |
| EIGEN score | -0.5633 |
| CADD Raw score (version 1.3) | -0.264532 (Deleterious) |
| FATHMM raw prediction score | 0.05483 (Tolerated) |
| Deleterious probability by DeFine | 0.1136 (Neutral) |
| Entrez Gene ID | 83641 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM107B (GeneCards) |
| Number of variants in FAM107B in this database | 7 (view all the variants) |
| Full name | family with sequence similarity 107 member B |
| Band | 10p13 |
| Other IDs | Vega: OTTHUMG00000017709 HGNC: HGNC:23726 Ensembl: ENSG00000065809 |
| Other names | HITS, C10orf45 |
| Summary | None |
| Individual ID | 29217584.24 (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; |