| Variant ID | 8708 |
|---|---|
| Entrez Gene ID | 9421 |
| Gene | HAND1 (GeneCards) |
| Location | hg19 5:153857844-153857844
hg38 5:154478284-154478284 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.153857844 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
|---|---|
| EIGEN score | 1.2918 |
| CADD Raw score (version 1.3) | 0.942487 (Deleterious) |
| FATHMM raw prediction score | 0.68185 (Tolerated) |
| Deleterious probability by DeFine | 0.9155 (Deleterious) |
| Entrez Gene ID | 9421 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HAND1 (GeneCards) |
| Number of variants in HAND1 in this database | 1 (view all the variants) |
| Full name | heart and neural crest derivatives expressed 1 |
| Band | 5q33.2 |
| Other IDs | Vega: OTTHUMG00000130193 OMIM: 602406 HGNC: HGNC:4807 Ensembl: ENSG00000113196 |
| Other names | Hxt, eHand, Thing1, bHLHa27 |
| Summary | The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008] |
| 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; |