| Variant ID | 24421 |
|---|---|
| Entrez Gene ID | 127707 |
| Gene | KLHDC7A (GeneCards) |
| Location | hg19 1:18837391-18837391
hg38 1:18510897-18510897 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000001.10:g.18837391 G>T (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2642 |
| CADD Raw score (version 1.3) | -0.278848 (Deleterious) |
| FATHMM raw prediction score | 0.11035 (Tolerated) |
| Deleterious probability by DeFine | 0.5459 (Deleterious) |
| Entrez Gene ID | 127707 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLHDC7A (GeneCards) |
| Number of variants in KLHDC7A in this database | 4 (view all the variants) |
| Full name | kelch domain containing 7A |
| Band | 1p36.13 |
| Other IDs | Vega: OTTHUMG00000002431 HGNC: HGNC:26791 Ensembl: ENSG00000179023 |
| 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 |