| Variant ID | 948 |
|---|---|
| Entrez Gene ID | 6169 |
| Gene | RPL38 (GeneCards) |
| Location | hg19 17:72205399-72205399
hg38 17:74209260-74209260 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.72205399 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 46 |
| Amino acid changes in protein | V > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | 1.5371 |
| CADD Raw score (version 1.3) | 1.954594 (Deleterious) |
| FATHMM raw prediction score | 0.95678 (Tolerated) |
| Deleterious probability by DeFine | 0.9483 (Deleterious) |
| Entrez Gene ID | 6169 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RPL38 (GeneCards) |
| Number of variants in RPL38 in this database | 1 (view all the variants) |
| Full name | ribosomal protein L38 |
| Band | 17q25.1 |
| Other IDs | Vega: OTTHUMG00000166016 OMIM: 604182 HGNC: HGNC:10349 Ensembl: ENSG00000172809 |
| Other names | L38 |
| 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 L38E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome, including one located in the promoter region of the type 1 angiotensin II receptor gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |