| Variant ID | 7192 |
|---|---|
| Entrez Gene ID | 11086 |
| Gene | ADAM29 (GeneCards) |
| Location | hg19 4:175894959-175894959
hg38 4:174973808-174973808 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.175894959 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5666 |
| CADD Raw score (version 1.3) | -0.586962 (Deleterious) |
| FATHMM raw prediction score | 0.05528 (Tolerated) |
| Deleterious probability by DeFine | 0.321 (Neutral) |
| Entrez Gene ID | 11086 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADAM29 (GeneCards) |
| Number of variants in ADAM29 in this database | 51 (view all the variants) |
| Full name | ADAM metallopeptidase domain 29 |
| Band | 4q34.1 |
| Other IDs | Vega: OTTHUMG00000160764 OMIM: 604778 HGNC: HGNC:207 Ensembl: ENSG00000168594 |
| Other names | CT73, svph1 |
| Summary | This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [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; |