| Variant ID | 20781 |
|---|---|
| Entrez Gene ID | 125704 |
| Gene | FAM69C (GeneCards) |
| Location | hg19 18:72109095-72109095
hg38 18:74441860-74441860 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.72109095 C>A (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 | -0.0631 |
| CADD Raw score (version 1.3) | 0.19981 (Deleterious) |
| FATHMM raw prediction score | 0.16779 (Tolerated) |
| Deleterious probability by DeFine | 0.7323 (Deleterious) |
| Entrez Gene ID | 125704 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM69C (GeneCards) |
| Number of variants in FAM69C in this database | 1 (view all the variants) |
| Full name | family with sequence similarity 69 member C |
| Band | 18q22.3 |
| Other IDs | Vega: OTTHUMG00000156984 OMIM: 614544 HGNC: HGNC:31729 Ensembl: ENSG00000187773 |
| Other names | C18orf51 |
| Summary | This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011] |
| 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; |