| Variant ID | 25344 |
|---|---|
| Entrez Gene ID | 9045 |
| Gene | RPL14 (GeneCards) |
| Location | hg19 3:40503575-40503575
hg38 3:40462084-40462084 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000003.11:g.40503575 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7231 |
| CADD Raw score (version 1.3) | 2.486614 (Deleterious) |
| FATHMM raw prediction score | 0.09256 (Tolerated) |
| SIFT score | 0.026 (Deleterious) |
| LRT score | 0.588 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.355 (Tolerated) |
| PROVEAN score | -0.84 (Tolerated) |
| MetaSVM score | -0.989 (Tolerated) |
| MetaLR score | 0.087 (Tolerated) |
| MCAP score | 0.011 (Tolerated) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.44 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.056 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.016 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.397 |
| Deleterious probability by iFish2 | 0.0887 (Neutral) |
| Deleterious probability by DeFine | 0.8592 (Deleterious) |
| Entrez Gene ID | 9045 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RPL14 (GeneCards) |
| Number of variants in RPL14 in this database | 1 (view all the variants) |
| Full name | ribosomal protein L14 |
| Band | 3p22.1 |
| Other IDs | Vega: OTTHUMG00000156046 OMIM: 617414 HGNC: HGNC:10305 Ensembl: ENSG00000188846 |
| Other names | L14, RL14, hRL14, CTG-B33, CAG-ISL-7 |
| Summary | Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5'-terminal exons exist but all encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |