| Variant ID | 29201 |
|---|---|
| Entrez Gene ID | 91584 |
| Gene | PLXNA4 (GeneCards) |
| Location | hg19 7:131913232-131913232
hg38 7:132228473-132228473 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000007.13:g.131913232 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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) | 0.00003229 |
|---|---|
| EIGEN score | 0.3768 |
| CADD Raw score (version 1.3) | -0.109568 (Deleterious) |
| FATHMM raw prediction score | 0.32394 (Tolerated) |
| Deleterious probability by DeFine | 0.8965 (Deleterious) |
| Entrez Gene ID | 91584 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLXNA4 (GeneCards) |
| Number of variants in PLXNA4 in this database | 5 (view all the variants) |
| Full name | plexin A4 |
| Band | 7q32.3 |
| Other IDs | Vega: OTTHUMG00000155108 OMIM: 604280 HGNC: HGNC:9102 Ensembl: ENSG00000221866 |
| Other names | PLEXA4, PLXNA4A, PLXNA4B, FAYV2820, PRO34003 |
| Summary | None |
| Individual ID | 28503910.78 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |