| Variant ID | 8622 |
|---|---|
| Entrez Gene ID | 735 |
| Gene | C9 (GeneCards) |
| Location | hg19 5:39356315-39356315
hg38 5:39356213-39356213 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.39356315 A>G (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1948 |
| CADD Raw score (version 1.3) | 0.169992 (Deleterious) |
| FATHMM raw prediction score | 0.17087 (Tolerated) |
| Deleterious probability by DeFine | 0.279 (Neutral) |
| Entrez Gene ID | 735 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C9 (GeneCards) |
| Number of variants in C9 in this database | 3 (view all the variants) |
| Full name | complement C9 |
| Band | 5p13.1 |
| Other IDs | Vega: OTTHUMG00000094767 OMIM: 120940 HGNC: HGNC:1358 Ensembl: ENSG00000113600 |
| Other names | C9D, ARMD15 |
| Summary | This gene encodes the final component of the complement system. It 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 component C9 deficiency. [provided by RefSeq, Feb 2009] |
| Individual ID | 29217584.17 (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; |