| Variant ID | 16935 |
|---|---|
| Entrez Gene ID | 283463 |
| Gene | MUC19 (GeneCards) |
| Location | hg19 12:41019901-41019901
hg38 12:40626099-40626099 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.41019901 C>G (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 | -0.0992 |
| CADD Raw score (version 1.3) | 0.338264 (Deleterious) |
| FATHMM raw prediction score | 0.16007 (Tolerated) |
| Deleterious probability by DeFine | 0.3381 (Neutral) |
| Entrez Gene ID | 283463 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MUC19 (GeneCards) |
| Number of variants in MUC19 in this database | 7 (view all the variants) |
| Full name | mucin 19, oligomeric |
| Band | 12q12 |
| Other IDs | OMIM: 612170 HGNC: HGNC:14362 |
| Other names | MUC-19 |
| Summary | This gene encodes a member of the gel-forming mucin protein family. Mucin family members are glycoproteins that have tandem repeats which are extensively O-glycosylated. The structural features of mucin proteins are responsible for the gel-like properties of mucus. The encoded protein may be involved in disruption of the ocular surface in Sjogren syndrome. [provided by RefSeq, Apr 2014] |
| 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; |