| Variant ID | 8204 |
|---|---|
| Entrez Gene ID | 64097 |
| Gene | EPB41L4A (GeneCards) |
| Location | hg19 5:111543939-111543939
hg38 5:112208242-112208242 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.111543939 C>A (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0.0001 |
|---|---|
| EIGEN score | -0.333 |
| CADD Raw score (version 1.3) | 0.024643 (Deleterious) |
| FATHMM raw prediction score | 0.07238 (Tolerated) |
| Deleterious probability by DeFine | 0.0481 (Neutral) |
| Entrez Gene ID | 64097 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPB41L4A (GeneCards) |
| Number of variants in EPB41L4A in this database | 7 (view all the variants) |
| Full name | erythrocyte membrane protein band 4.1 like 4A |
| Band | 5q22.1-q22.2 |
| Other IDs | Vega: OTTHUMG00000162902 OMIM: 612141 HGNC: HGNC:13278 Ensembl: ENSG00000129595 |
| Other names | NBL4, EPB41L4 |
| Summary | The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016] |
| Individual ID | 29217584.12 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |