| Variant ID | 19708 |
|---|---|
| Entrez Gene ID | 54947 |
| Gene | LPCAT2 (GeneCards) |
| Location | hg19 16:55599335-55599335
hg38 16:55565423-55565423 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.55599335 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0574 |
| CADD Raw score (version 1.3) | -0.009227 (Deleterious) |
| FATHMM raw prediction score | 0.12578 (Tolerated) |
| Deleterious probability by DeFine | 0.2706 (Neutral) |
| Entrez Gene ID | 54947 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LPCAT2 (GeneCards) |
| Number of variants in LPCAT2 in this database | 3 (view all the variants) |
| Full name | lysophosphatidylcholine acyltransferase 2 |
| Band | 16q12.2 |
| Other IDs | Vega: OTTHUMG00000133238 OMIM: 612040 HGNC: HGNC:26032 Ensembl: ENSG00000087253 |
| Other names | AYTL1, AGPAT11, LysoPAFAT |
| Summary | This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009] |
| 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; |