| Variant ID | 26411 |
|---|---|
| Entrez Gene ID | 57157 |
| Gene | PHTF2 (GeneCards) |
| Location | hg19 7:77583010-77583010
hg38 7:77953693-77953693 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000007.13:g.77583010 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 | 0.2612 |
| CADD Raw score (version 1.3) | 0.333115 (Deleterious) |
| FATHMM raw prediction score | 0.26931 (Tolerated) |
| Deleterious probability by DeFine | 0.4388 (Neutral) |
| 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 | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |