| Variant ID | 29124 |
|---|---|
| Entrez Gene ID | 57157 |
| Gene | PHTF2 (GeneCards) |
| Location | hg19 7:77572116-77572116
hg38 7:77942799-77942799 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000007.13:g.77572116 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 |
|---|---|
| EIGEN score | 0.3747 |
| CADD Raw score (version 1.3) | 1.055001 (Deleterious) |
| FATHMM raw prediction score | 0.19393 (Tolerated) |
| Deleterious probability by DeFine | 0.5738 (Deleterious) |
| Entrez Gene ID | 57157 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PHTF2 (GeneCards) |
| Number of variants in PHTF2 in this database | 4 (view all the variants) |
| Full name | putative homeodomain transcription factor 2 |
| Band | 7q11.23-q21.11 |
| Other IDs | Vega: OTTHUMG00000155557 OMIM: 616785 HGNC: HGNC:13411 Ensembl: ENSG00000006576 |
| Other names | None |
| Summary | None |
| Individual ID | 28503910.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |