| Variant ID | 14835 |
|---|---|
| Entrez Gene ID | 4153 |
| Gene | MBL2 (GeneCards) |
| Location | hg19 10:55320025-55320025
hg38 10:53560265-53560265 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.55320025 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6344 |
| CADD Raw score (version 1.3) | -0.450741 (Deleterious) |
| FATHMM raw prediction score | 0.0423 (Tolerated) |
| Deleterious probability by DeFine | 0.0751 (Neutral) |
| Entrez Gene ID | 4153 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MBL2 (GeneCards) |
| Number of variants in MBL2 in this database | 13 (view all the variants) |
| Full name | mannose binding lectin 2 |
| Band | 10q21.1 |
| Other IDs | Vega: OTTHUMG00000150270 OMIM: 154545 HGNC: HGNC:6922 Ensembl: ENSG00000165471 |
| Other names | MBL, MBP, MBP1, MBPD, MBL2D, MBP-C, COLEC1, HSMBPC |
| Summary | This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |