| Variant ID | 28427 |
|---|---|
| Entrez Gene ID | 23136 |
| Gene | EPB41L3 (GeneCards) |
| Location | hg19 18:5722315-5722315
hg38 18:5722316-5722316 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000018.9:g.5722315 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5557 |
| CADD Raw score (version 1.3) | -0.553647 (Deleterious) |
| FATHMM raw prediction score | 0.04686 (Tolerated) |
| Deleterious probability by DeFine | 0.687 (Deleterious) |
| Entrez Gene ID | 23136 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPB41L3 (GeneCards) |
| Number of variants in EPB41L3 in this database | 4 (view all the variants) |
| Full name | erythrocyte membrane protein band 4.1 like 3 |
| Band | 18p11.31 |
| Other IDs | Vega: OTTHUMG00000131562 OMIM: 605331 HGNC: HGNC:3380 Ensembl: ENSG00000082397 |
| Other names | 4.1B, DAL1, DAL-1 |
| 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 |