| Variant ID | 29774 |
|---|---|
| Entrez Gene ID | 64097 |
| Gene | EPB41L4A (GeneCards) |
| Location | hg19 5:111506680-111506680
hg38 5:112170983-112170983 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000005.9:g.111506680 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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) | 0.0002 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs200794899 |
| EIGEN score | 0.2981 |
| CADD Raw score (version 1.3) | 1.204757 (Deleterious) |
| FATHMM raw prediction score | 0.17673 (Tolerated) |
| Deleterious probability by DeFine | 0.6026 (Deleterious) |
| 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 | 28867142.35 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |