| Variant ID | 26012 |
|---|---|
| Entrez Gene ID | 340069 |
| Gene | FAM170A (GeneCards) |
| Location | hg19 5:119465563-119465563
hg38 5:120129868-120129868 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000005.9:g.119465563 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0801 |
| CADD Raw score (version 1.3) | -0.15974 (Deleterious) |
| FATHMM raw prediction score | 0.21431 (Tolerated) |
| Deleterious probability by DeFine | 0.0477 (Neutral) |
| Entrez Gene ID | 340069 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM170A (GeneCards) |
| Number of variants in FAM170A in this database | 13 (view all the variants) |
| Full name | family with sequence similarity 170 member A |
| Band | 5q23.1 |
| Other IDs | Vega: OTTHUMG00000162946 HGNC: HGNC:27963 Ensembl: ENSG00000164334 |
| Other names | ZNFD |
| Summary | None |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |