| Variant ID | 26385 |
|---|---|
| Entrez Gene ID | 222223 |
| Gene | KIAA1324L (GeneCards) |
| Location | hg19 7:86645893-86645893
hg38 7:87016577-87016577 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000007.13:g.86645893 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1924 |
| CADD Raw score (version 1.3) | -0.245241 (Deleterious) |
| FATHMM raw prediction score | 0.16218 (Tolerated) |
| Deleterious probability by DeFine | 0.3424 (Neutral) |
| Entrez Gene ID | 222223 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KIAA1324L (GeneCards) |
| Number of variants in KIAA1324L in this database | 6 (view all the variants) |
| Full name | KIAA1324 like |
| Band | 7q21.12 |
| Other IDs | Vega: OTTHUMG00000153995 OMIM: 614048 HGNC: HGNC:21945 Ensembl: ENSG00000164659 |
| Other names | EIG121L |
| 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 |