| Variant ID | 14146 |
|---|---|
| Entrez Gene ID | 23185 |
| Gene | LARP4B (GeneCards) |
| Location | hg19 10:894767-894767
hg38 10:848827-848827 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.894767 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.24 |
| CADD Raw score (version 1.3) | 0.348156 (Deleterious) |
| FATHMM raw prediction score | 0.12012 (Tolerated) |
| Deleterious probability by DeFine | 0.087 (Neutral) |
| Entrez Gene ID | 23185 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LARP4B (GeneCards) |
| Number of variants in LARP4B in this database | 6 (view all the variants) |
| Full name | La ribonucleoprotein domain family member 4B |
| Band | 10p15.3 |
| Other IDs | Vega: OTTHUMG00000017534 OMIM: 616513 HGNC: HGNC:28987 Ensembl: ENSG00000107929 |
| Other names | LARP5, KIAA0217 |
| Summary | This gene encodes a member of an evolutionarily conserved protein family implicated in RNA metabolism and translation. Members of this family are characterized by the presence of an La motif, which is often located adjacent to one or more RNA recognition motifs (RRM). Together, the two motifs constitute the functional region of the protein and enable its interaction with the RNA substrate. This protein family is divided into five sub-families: the genuine La proteins and four La-related protein (LARP) sub-families. The protein encoded by this gene belongs to LARP sub-family 4. It is a cytoplasmic protein that may play a stimulatory role in translation. [provided by RefSeq, Oct 2012] |
| Individual ID | 29217584.08 (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; |