| Variant ID | 10520 |
|---|---|
| Entrez Gene ID | 221981 |
| Gene | THSD7A (GeneCards) |
| Location | hg19 7:11827564-11827564
hg38 7:11787938-11787938 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.11827564 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1105 |
| CADD Raw score (version 1.3) | 0.038868 (Deleterious) |
| FATHMM raw prediction score | 0.08807 (Tolerated) |
| Deleterious probability by DeFine | 0.4704 (Neutral) |
| Entrez Gene ID | 221981 (NCBI Gene) |
|---|---|
| Official Gene Symbol | THSD7A (GeneCards) |
| Number of variants in THSD7A in this database | 24 (view all the variants) |
| Full name | thrombospondin type 1 domain containing 7A |
| Band | 7p21.3 |
| Other IDs | Vega: OTTHUMG00000152346 OMIM: 612249 HGNC: HGNC:22207 Ensembl: ENSG00000005108 |
| Other names | None |
| Summary | The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010] |
| Individual ID | 29217584.05 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |