| Variant ID | 8601 |
|---|---|
| Entrez Gene ID | 57824 |
| Gene | HMHB1 (GeneCards) |
| Location | hg19 5:143314308-143314308
hg38 5:143934743-143934743 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.143314308 G>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2169 |
| CADD Raw score (version 1.3) | 0.30125 (Deleterious) |
| FATHMM raw prediction score | 0.13568 (Tolerated) |
| Deleterious probability by DeFine | 0.0494 (Neutral) |
| Entrez Gene ID | 57824 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HMHB1 (GeneCards) |
| Number of variants in HMHB1 in this database | 7 (view all the variants) |
| Full name | histocompatibility minor HB-1 |
| Band | 5q31.3 |
| Other IDs | Vega: OTTHUMG00000163173 OMIM: 609961 HGNC: HGNC:29677 Ensembl: ENSG00000158497 |
| Other names | HB-1, HB-1Y, HLA-HB1 |
| Summary | This gene encodes one of the minor histocompatibility antigens, which play an important role in the induction of cytotoxic T lymphocyte (CTL) reactivity against leukemia after human histocompatibility leukocyte antigen (HLA)-identical allogeneic bone marrow transplantation (BMT). This gene is only expressed in B cell acute lymphoblastic leukemia cells and Epstein-Barr virus-transformed B cells. The translation of this mRNA initiates at a non-AUG (CUG) codon. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |