| Variant ID | 29667 |
|---|---|
| Entrez Gene ID | 2694 |
| Gene | GIF (GeneCards) |
| Location | hg19 11:59603442-59603442
hg38 11:59835969-59835969 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.59603442 A>G (Genome Assembly: hg19) |
| 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0619 |
| CADD Raw score (version 1.3) | -0.802097 (Deleterious) |
| FATHMM raw prediction score | 0.14333 (Tolerated) |
| Deleterious probability by DeFine | 0.7581 (Deleterious) |
| Entrez Gene ID | 2694 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GIF (GeneCards) |
| Number of variants in GIF in this database | 1 (view all the variants) |
| Full name | gastric intrinsic factor |
| Band | 11q12.1 |
| Other IDs | Vega: OTTHUMG00000167399 OMIM: 609342 HGNC: HGNC:4268 Ensembl: ENSG00000134812 |
| Other names | IF, INF, IFMH, TCN3 |
| Summary | This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.343 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |