| Variant ID | 19218 |
|---|---|
| Entrez Gene ID | 145781 |
| Gene | GCOM1 (GeneCards) |
| Location | hg19 15:57958646-57958646
hg38 15:57666448-57666448 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.57958646 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2652 |
| CADD Raw score (version 1.3) | -0.335202 (Deleterious) |
| FATHMM raw prediction score | 0.10745 (Tolerated) |
| Deleterious probability by DeFine | 0.5956 (Deleterious) |
| Entrez Gene ID | 145781 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GCOM1 (GeneCards) |
| Number of variants in GCOM1 in this database | 4 (view all the variants) |
| Full name | GRINL1A complex locus 1 |
| Band | 15q21.3 |
| Other IDs | Vega: OTTHUMG00000176411 HGNC: HGNC:26424 Ensembl: ENSG00000137878 |
| Other names | gcom, Gcom2, MYZAP, GRINL1A, MYZAP-POLR2M |
| Summary | This locus represents naturally occurring readthrough transcription between the neighboring MYZAP (myocardial zonula adherens protein) and POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) genes on chromosome 15. Alternative splicing results in multiple readthrough transcript variants. Readthrough variants may encode proteins that share sequence identity with the upstream gene product or with both the upstream and downstream gene products. Some readthrough transcript variants are also expected to be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Oct 2013] |
| 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; |