| Variant ID | 27865 |
|---|---|
| Entrez Gene ID | 100874185 |
| Gene | FRMD6-AS2 (GeneCards) |
| Location | hg19 14:52018023-52018023
hg38 14:51551305-51551305 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000014.8:g.52018023 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.231 |
| CADD Raw score (version 1.3) | 0.018255 (Deleterious) |
| FATHMM raw prediction score | 0.16227 (Tolerated) |
| Deleterious probability by DeFine | 0.3795 (Neutral) |
| Entrez Gene ID | 100874185 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FRMD6-AS2 (GeneCards) |
| Number of variants in FRMD6-AS2 in this database | 6 (view all the variants) |
| Full name | FRMD6 antisense RNA 2 |
| Band | 14q22.1 |
| Other IDs | HGNC: HGNC:43637 Ensembl: ENSG00000258537 |
| 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 |