| Variant ID | 21464 |
|---|---|
| Entrez Gene ID | 55304 |
| Gene | SPTLC3 (GeneCards) |
| Location | hg19 20:13106450-13106450
hg38 20:13125803-13125803 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.13106450 A>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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0711 |
| CADD Raw score (version 1.3) | 0.053641 (Deleterious) |
| FATHMM raw prediction score | 0.12293 (Tolerated) |
| Deleterious probability by DeFine | 0.3993 (Neutral) |
| Entrez Gene ID | 55304 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPTLC3 (GeneCards) |
| Number of variants in SPTLC3 in this database | 7 (view all the variants) |
| Full name | serine palmitoyltransferase long chain base subunit 3 |
| Band | 20p12.1 |
| Other IDs | Vega: OTTHUMG00000031899 OMIM: 611120 HGNC: HGNC:16253 Ensembl: ENSG00000172296 |
| Other names | LCB3, SPT3, LCB3, LCB2B, SPT3, hLCB2b, SPTLC2L, C20orf38, dJ718P11, dJ718P11.1 |
| Summary | This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases. [provided by RefSeq, Mar 2017] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |