| Variant ID | 14720 |
|---|---|
| Entrez Gene ID | 79991 |
| Gene | OBFC1 (GeneCards) |
| Location | hg19 10:105695665-105695665
hg38 10:103935907-103935907 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.105695665 G>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6333 |
| CADD Raw score (version 1.3) | -0.393038 (Deleterious) |
| FATHMM raw prediction score | 0.04362 (Tolerated) |
| Deleterious probability by DeFine | 0.2766 (Neutral) |
| Entrez Gene ID | 79991 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OBFC1 (GeneCards) |
| Number of variants in STN1 in this database | 4 (view all the variants) |
| Full name | STN1, CST complex subunit |
| Band | 10q24.33 |
| Other IDs | Vega: OTTHUMG00000018996 OMIM: 613128 HGNC: HGNC:26200 Ensembl: ENSG00000107960 |
| Other names | AAF44, OBFC1, AAF-44, RPA-32, bA541N10.2 |
| Summary | OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009] |
| Individual ID | 29217584.16 (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; |