| Variant ID | 7209 |
|---|---|
| Entrez Gene ID | 2169 |
| Gene | FABP2 (GeneCards) |
| Location | hg19 4:120299999-120299999
hg38 4:119378844-119378844 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.120299999 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2958 |
| CADD Raw score (version 1.3) | 0.180889 (Deleterious) |
| FATHMM raw prediction score | 0.06372 (Tolerated) |
| Deleterious probability by DeFine | 0.135 (Neutral) |
| Entrez Gene ID | 2169 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FABP2 (GeneCards) |
| Number of variants in FABP2 in this database | 6 (view all the variants) |
| Full name | fatty acid binding protein 2 |
| Band | 4q26 |
| Other IDs | Vega: OTTHUMG00000132972 OMIM: 134640 HGNC: HGNC:3556 Ensembl: ENSG00000145384 |
| Other names | FABPI, I-FABP |
| Summary | The protein encoded by this gene is an intracellular fatty acid-binding protein that participates in the uptake, intracellular metabolism, and transport of long-chain fatty acids. The encoded protein is also involved in the modulation of cell growth and proliferation. This protein binds saturated long-chain fatty acids with high affinity, and may act as a lipid sensor to maintain energy homeostasis. [provided by RefSeq, Aug 2017] |
| 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; |