| Variant ID | 2792 |
|---|---|
| Entrez Gene ID | 731 |
| Gene | C8A (GeneCards) |
| Location | hg19 1:57334161-57334161
hg38 1:56868488-56868488 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.57334161 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3906 |
| CADD Raw score (version 1.3) | -0.094491 (Deleterious) |
| FATHMM raw prediction score | 0.06477 (Tolerated) |
| Deleterious probability by DeFine | 0.2576 (Neutral) |
| Entrez Gene ID | 731 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C8A (GeneCards) |
| Number of variants in C8A in this database | 5 (view all the variants) |
| Full name | complement C8 alpha chain |
| Band | 1p32.2 |
| Other IDs | Vega: OTTHUMG00000008306 OMIM: 120950 HGNC: HGNC:1352 Ensembl: ENSG00000157131 |
| Other names | None |
| Summary | C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008] |
| Individual ID | 29217584.22 (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; |