| Variant ID | 14729 |
|---|---|
| Entrez Gene ID | 340895 |
| Gene | MALRD1 (GeneCards) |
| Location | hg19 10:19723048-19723048
hg38 10:19434119-19434119 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.19723048 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.214 |
| CADD Raw score (version 1.3) | -0.145327 (Deleterious) |
| FATHMM raw prediction score | 0.08522 (Tolerated) |
| Deleterious probability by DeFine | 0.4378 (Neutral) |
| Entrez Gene ID | 340895 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MALRD1 (GeneCards) |
| Number of variants in MALRD1 in this database | 16 (view all the variants) |
| Full name | MAM and LDL receptor class A domain containing 1 |
| Band | 10p12.31 |
| Other IDs | Vega: OTTHUMG00000017779 OMIM: 617715 HGNC: HGNC:24331 Ensembl: ENSG00000204740 |
| Other names | DIET1, C10orf112, bA265G8.2 |
| Summary | This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enriched in the small intestine and is upregulated during differentiation of a human cell line that exhibits properties of intestinal epithelial cells. The encoded protein has been shown to modulate production of FGF19 in a human intestinal cell line and may regulate bile acid metabolism in the liver. A synergistic interaction between an allele of this gene and the APOE E4 allele is associated with an elevated risk of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2017] |
| 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; |