| Variant ID | 11351 |
|---|---|
| Entrez Gene ID | 9863 |
| Gene | MAGI2 (GeneCards) |
| Location | hg19 7:78505216-78505216
hg38 7:78875900-78875900 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.78505216 A>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3537 |
| CADD Raw score (version 1.3) | -0.412777 (Deleterious) |
| FATHMM raw prediction score | 0.05971 (Tolerated) |
| Deleterious probability by DeFine | 0.1595 (Neutral) |
| Entrez Gene ID | 9863 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAGI2 (GeneCards) |
| Number of variants in MAGI2 in this database | 22 (view all the variants) |
| Full name | membrane associated guanylate kinase, WW and PDZ domain containing 2 |
| Band | 7q21.11 |
| Other IDs | Vega: OTTHUMG00000130697 OMIM: 606382 HGNC: HGNC:18957 Ensembl: ENSG00000187391 |
| Other names | AIP1, AIP-1, ARIP1, SSCAM, MAGI-2, ACVRIP1 |
| Summary | The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008] |
| 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; |