| Variant ID | 17814 |
|---|---|
| Entrez Gene ID | 341640 |
| Gene | FREM2 (GeneCards) |
| Location | hg19 13:39289464-39289464
hg38 13:38715327-38715327 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.39289464 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6279 |
| CADD Raw score (version 1.3) | -0.442841 (Deleterious) |
| FATHMM raw prediction score | 0.05116 (Tolerated) |
| Deleterious probability by DeFine | 0.2356 (Neutral) |
| Entrez Gene ID | 341640 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FREM2 (GeneCards) |
| Number of variants in FREM2 in this database | 5 (view all the variants) |
| Full name | FRAS1 related extracellular matrix protein 2 |
| Band | 13q13.3 |
| Other IDs | Vega: OTTHUMG00000016759 OMIM: 608945 HGNC: HGNC:25396 Ensembl: ENSG00000150893 |
| Other names | FRASRS2 |
| Summary | This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014] |
| 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; |