| Variant ID | 14731 |
|---|---|
| Entrez Gene ID | 259230 |
| Gene | SGMS1 (GeneCards) |
| Location | hg19 10:52265802-52265802
hg38 10:50506042-50506042 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.52265802 C>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.344 |
| CADD Raw score (version 1.3) | -0.040325 (Deleterious) |
| FATHMM raw prediction score | 0.13713 (Tolerated) |
| Deleterious probability by DeFine | 0.3369 (Neutral) |
| Entrez Gene ID | 259230 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SGMS1 (GeneCards) |
| Number of variants in SGMS1 in this database | 9 (view all the variants) |
| Full name | sphingomyelin synthase 1 |
| Band | 10q11.23 |
| Other IDs | Vega: OTTHUMG00000018231 OMIM: 611573 HGNC: HGNC:29799 Ensembl: ENSG00000198964 |
| Other names | MOB, MOB1, SMS1, TMEM23, hmob33 |
| Summary | The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008] |
| 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; |