| Variant ID | 10144 |
|---|---|
| Entrez Gene ID | 9324 |
| Gene | HMGN3 (GeneCards) |
| Location | hg19 6:79910398-79910398
hg38 6:79200681-79200681 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.79910398 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0471 |
| CADD Raw score (version 1.3) | 0.39582 (Deleterious) |
| FATHMM raw prediction score | 0.16093 (Tolerated) |
| Deleterious probability by DeFine | 0.4942 (Neutral) |
| Entrez Gene ID | 9324 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HMGN3 (GeneCards) |
| Number of variants in HMGN3 in this database | 1 (view all the variants) |
| Full name | high mobility group nucleosomal binding domain 3 |
| Band | 6q14.1 |
| Other IDs | Vega: OTTHUMG00000015073 OMIM: 604502 HGNC: HGNC:12312 Ensembl: ENSG00000118418 |
| Other names | TRIP7, PNAS-24, PNAS-25 |
| Summary | The protein encoded by this gene binds thyroid hormone receptor beta in the presence of thyroid hormone. The encoded protein, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. There is a related pseudogene on chromosome 1. [provided by RefSeq, Jan 2016] |
| 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; |