| Variant ID | 22016 |
|---|---|
| Entrez Gene ID | 4102 |
| Gene | MAGEA3 (GeneCards) |
| Location | hg19 X:151964530-151964530
hg38 X:152795986-152795986 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.151964530 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.170406 (Deleterious) |
| FATHMM raw prediction score | 0.05785 (Tolerated) |
| Deleterious probability by DeFine | 0.3668 (Neutral) |
| Entrez Gene ID | 4102 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAGEA3 (GeneCards) |
| Number of variants in MAGEA3 in this database | 1 (view all the variants) |
| Full name | MAGE family member A3 |
| Band | Xq28 |
| Other IDs | Vega: OTTHUMG00000022640 OMIM: 300174 HGNC: HGNC:6801 Ensembl: ENSG00000221867 |
| Other names | HIP8, HYPD, CT1.3, MAGE3, MAGEA6 |
| Summary | This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |