| Variant ID | 16885 |
|---|---|
| Entrez Gene ID | 4604 |
| Gene | MYBPC1 (GeneCards) |
| Location | hg19 12:102043941-102043941
hg38 12:101650163-101650163 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.102043941 C>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1031 |
| CADD Raw score (version 1.3) | 0.664019 (Deleterious) |
| FATHMM raw prediction score | 0.12888 (Tolerated) |
| Deleterious probability by DeFine | 0.4666 (Neutral) |
| Entrez Gene ID | 4604 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYBPC1 (GeneCards) |
| Number of variants in MYBPC1 in this database | 2 (view all the variants) |
| Full name | myosin binding protein C, slow type |
| Band | 12q23.2 |
| Other IDs | Vega: OTTHUMG00000170274 OMIM: 160794 HGNC: HGNC:7549 Ensembl: ENSG00000196091 |
| Other names | LCCS4, MYBPCC, MYBPCS |
| Summary | This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] |
| Individual ID | 29217584.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |