| Variant ID | 14766 |
|---|---|
| Entrez Gene ID | 8513 |
| Gene | LIPF (GeneCards) |
| Location | hg19 10:90460027-90460027
hg38 10:88700270-88700270 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.90460027 A>G (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 | 0.2432 |
| CADD Raw score (version 1.3) | 0.431521 (Deleterious) |
| FATHMM raw prediction score | 0.57273 (Tolerated) |
| Deleterious probability by DeFine | 0.3437 (Neutral) |
| Entrez Gene ID | 8513 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LIPF (GeneCards) |
| Number of variants in LIPF in this database | 1 (view all the variants) |
| Full name | lipase F, gastric type |
| Band | 10q23.31 |
| Other IDs | Vega: OTTHUMG00000018695 OMIM: 601980 HGNC: HGNC:6622 Ensembl: ENSG00000182333 |
| Other names | GL, HGL, HLAL |
| Summary | This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] |
| Individual ID | 29217584.19 (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; |