| Variant ID | 19627 |
|---|---|
| Entrez Gene ID | 3684 |
| Gene | ITGAM (GeneCards) |
| Location | hg19 16:31299486-31299486
hg38 16:31288165-31288165 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.31299486 G>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 | -0.2325 |
| CADD Raw score (version 1.3) | -0.225195 (Deleterious) |
| FATHMM raw prediction score | 0.1045 (Tolerated) |
| Deleterious probability by DeFine | 0.2473 (Neutral) |
| Entrez Gene ID | 3684 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ITGAM (GeneCards) |
| Number of variants in ITGAM in this database | 2 (view all the variants) |
| Full name | integrin subunit alpha M |
| Band | 16p11.2 |
| Other IDs | Vega: OTTHUMG00000176612 OMIM: 120980 HGNC: HGNC:6149 Ensembl: ENSG00000169896 |
| Other names | CR3A, MO1A, CD11B, MAC-1, MAC1A, SLEB6 |
| Summary | This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
| Individual ID | 29217584.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |