| Variant ID | 26224 |
|---|---|
| Entrez Gene ID | 401265 |
| Gene | KLHL31 (GeneCards) |
| Location | hg19 6:53645556-53645556
hg38 6:53780758-53780758 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000006.11:g.53645556 C>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3449 |
| CADD Raw score (version 1.3) | -0.080644 (Deleterious) |
| FATHMM raw prediction score | 0.06826 (Tolerated) |
| Deleterious probability by DeFine | 0.1031 (Neutral) |
| Entrez Gene ID | 401265 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLHL31 (GeneCards) |
| Number of variants in KLHL31 in this database | 3 (view all the variants) |
| Full name | kelch like family member 31 |
| Band | 6p12.1 |
| Other IDs | Vega: OTTHUMG00000014882 OMIM: 610749 HGNC: HGNC:21353 Ensembl: ENSG00000124743 |
| Other names | KLHL, BKLHD6, KBTBD1, bA345L23.2 |
| 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 |