| Variant ID | 829 |
|---|---|
| Entrez Gene ID | 2658 |
| Gene | GDF2 (GeneCards) |
| Location | hg19 10:48413884-48413884
hg38 10:47325478-47325478 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000010.10:g.48413884 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 328 |
| Amino acid changes in protein | Q > Q |
| 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 | 0.9726 |
| CADD Raw score (version 1.3) | -2.142082 (Deleterious) |
| FATHMM raw prediction score | 0.95063 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.13 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.031 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.051 |
| Deleterious probability by DeFine | 0.9579 (Deleterious) |
| Entrez Gene ID | 2658 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GDF2 (GeneCards) |
| Number of variants in GDF2 in this database | 1 (view all the variants) |
| Full name | growth differentiation factor 2 |
| Band | 10q11.22 |
| Other IDs | Vega: OTTHUMG00000188320 OMIM: 605120 HGNC: HGNC:4217 Ensembl: ENSG00000263761 |
| Other names | BMP9, HHT5, BMP-9 |
| Summary | This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |