| Variant ID | 16957 |
|---|---|
| Entrez Gene ID | 338811 |
| Gene | FAM19A2 (GeneCards) |
| Location | hg19 12:62190936-62190936
hg38 12:61797155-61797155 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.62190936 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| EIGEN score | 0.2158 |
| CADD Raw score (version 1.3) | -0.296836 (Deleterious) |
| FATHMM raw prediction score | 0.16888 (Tolerated) |
| Deleterious probability by DeFine | 0.564 (Deleterious) |
| Entrez Gene ID | 338811 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM19A2 (GeneCards) |
| Number of variants in FAM19A2 in this database | 9 (view all the variants) |
| Full name | family with sequence similarity 19 member A2, C-C motif chemokine like |
| Band | 12q14.1 |
| Other IDs | Vega: OTTHUMG00000170207 OMIM: 617496 HGNC: HGNC:21589 Ensembl: ENSG00000198673 |
| Other names | TAFA2, TAFA-2 |
| Summary | This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (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; |