| Variant ID | 2619 |
|---|---|
| Entrez Gene ID | 23065 |
| Gene | EMC1 (GeneCards) |
| Location | hg19 1:19565387-19565387
hg38 1:19238893-19238893 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.19565387 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6986 |
| CADD Raw score (version 1.3) | 2.064436 (Deleterious) |
| FATHMM raw prediction score | 0.25752 (Tolerated) |
| Deleterious probability by DeFine | 0.7012 (Deleterious) |
| Entrez Gene ID | 23065 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EMC1 (GeneCards) |
| Number of variants in EMC1 in this database | 1 (view all the variants) |
| Full name | ER membrane protein complex subunit 1 |
| Band | 1p36.13 |
| Other IDs | Vega: OTTHUMG00000002497 OMIM: 616846 HGNC: HGNC:28957 Ensembl: ENSG00000127463 |
| Other names | CAVIPMR, KIAA0090 |
| Summary | This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012] |
| 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; |