| Variant ID | 10417 |
|---|---|
| Entrez Gene ID | 10371 |
| Gene | SEMA3A (GeneCards) |
| Location | hg19 7:83738617-83738617
hg38 7:84109301-84109301 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.83738617 T>C (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 | 0.0776 |
| CADD Raw score (version 1.3) | 0.190366 (Deleterious) |
| FATHMM raw prediction score | 0.17025 (Tolerated) |
| Deleterious probability by DeFine | 0.6161 (Deleterious) |
| Entrez Gene ID | 10371 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SEMA3A (GeneCards) |
| Number of variants in SEMA3A in this database | 6 (view all the variants) |
| Full name | semaphorin 3A |
| Band | 7q21.11 |
| Other IDs | Vega: OTTHUMG00000023443 OMIM: 603961 HGNC: HGNC:10723 Ensembl: ENSG00000075213 |
| Other names | HH16, SemD, COLL1, SEMA1, SEMAD, SEMAL, coll-1, Hsema-I, SEMAIII, Hsema-III |
| Summary | This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (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; |