| Variant ID | 2505 |
|---|---|
| Entrez Gene ID | 26750 |
| Gene | RPS6KC1 (GeneCards) |
| Location | hg19 1:213913248-213913248
hg38 1:213739905-213739905 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.213913248 G>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1238 |
| CADD Raw score (version 1.3) | -0.005545 (Deleterious) |
| FATHMM raw prediction score | 0.08711 (Tolerated) |
| Deleterious probability by DeFine | 0.3076 (Neutral) |
| Entrez Gene ID | 26750 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RPS6KC1 (GeneCards) |
| Number of variants in RPS6KC1 in this database | 10 (view all the variants) |
| Full name | ribosomal protein S6 kinase C1 |
| Band | 1q32.3 |
| Other IDs | Vega: OTTHUMG00000036926 OMIM: 617517 HGNC: HGNC:10439 Ensembl: ENSG00000136643 |
| Other names | RSKL1, RPK118, S6PKh1, hmS6PKh1, S6K-delta-1 |
| Summary | Sphingosine kinase catalyzes the formation of sphingosine 1 phosphate, a lipid cellular messenger. The protein encoded by this gene can bind to sphingosine kinase and to phosphatidylinositol 3-phosphate, suggesting a role in sphingosine 1 phophate signaling. The encoded protein can also bind to peroxiredoxin-3 and may help transport it to mitochondria. [provided by RefSeq, Mar 2017] |
| Individual ID | 29217584.14 (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; |