| Variant ID | 11374 |
|---|---|
| Entrez Gene ID | 223117 |
| Gene | SEMA3D (GeneCards) |
| Location | hg19 7:85627326-85627326
hg38 7:85998010-85998010 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.85627326 C>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3486 |
| CADD Raw score (version 1.3) | -0.033375 (Deleterious) |
| FATHMM raw prediction score | 0.07204 (Tolerated) |
| Deleterious probability by DeFine | 0.0685 (Neutral) |
| Entrez Gene ID | 223117 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SEMA3D (GeneCards) |
| Number of variants in SEMA3D in this database | 17 (view all the variants) |
| Full name | semaphorin 3D |
| Band | 7q21.11 |
| Other IDs | Vega: OTTHUMG00000154569 OMIM: 609907 HGNC: HGNC:10726 Ensembl: ENSG00000153993 |
| Other names | coll-2, Sema-Z2 |
| Summary | This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016] |
| Individual ID | 29217584.17 (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; |