| Variant ID | 28631 |
|---|---|
| Entrez Gene ID | 2036 |
| Gene | EPB41L1 (GeneCards) |
| Location | hg19 20:34691511-34691511
hg38 20:36103589-36103589 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000020.10:g.34691511 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5407 |
| CADD Raw score (version 1.3) | 1.108017 (Deleterious) |
| FATHMM raw prediction score | 0.38099 (Tolerated) |
| Deleterious probability by DeFine | 0.5448 (Deleterious) |
| Entrez Gene ID | 2036 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPB41L1 (GeneCards) |
| Number of variants in EPB41L1 in this database | 2 (view all the variants) |
| Full name | erythrocyte membrane protein band 4.1 like 1 |
| Band | 20q11.23 |
| Other IDs | Vega: OTTHUMG00000032378 OMIM: 602879 HGNC: HGNC:3378 Ensembl: ENSG00000088367 |
| Other names | 4.1N, MRD11 |
| Summary | Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |