| Variant ID | 20705 |
|---|---|
| Entrez Gene ID | 23347 |
| Gene | SMCHD1 (GeneCards) |
| Location | hg19 18:2809777-2809777
hg38 18:2809779-2809779 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.2809777 T>C (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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0166 |
| CADD Raw score (version 1.3) | 0.956565 (Deleterious) |
| FATHMM raw prediction score | 0.31651 (Tolerated) |
| Deleterious probability by DeFine | 0.0824 (Neutral) |
| Entrez Gene ID | 23347 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SMCHD1 (GeneCards) |
| Number of variants in SMCHD1 in this database | 5 (view all the variants) |
| Full name | structural maintenance of chromosomes flexible hinge domain containing 1 |
| Band | 18p11.32 |
| Other IDs | Vega: OTTHUMG00000178235 OMIM: 614982 HGNC: HGNC:29090 Ensembl: ENSG00000101596 |
| Other names | BAMS, FSHD2 |
| Summary | This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011] |
| Individual ID | 29217584.19 (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; |