| Variant ID | 10429 |
|---|---|
| Entrez Gene ID | 9844 |
| Gene | ELMO1 (GeneCards) |
| Location | hg19 7:37669730-37669730
hg38 7:37630127-37630127 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.37669730 T>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2564 |
| CADD Raw score (version 1.3) | 0.707456 (Deleterious) |
| FATHMM raw prediction score | 0.11392 (Tolerated) |
| Deleterious probability by DeFine | 0.0457 (Neutral) |
| Entrez Gene ID | 9844 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ELMO1 (GeneCards) |
| Number of variants in ELMO1 in this database | 7 (view all the variants) |
| Full name | engulfment and cell motility 1 |
| Band | 7p14.2-p14.1 |
| Other IDs | Vega: OTTHUMG00000023701 OMIM: 606420 HGNC: HGNC:16286 Ensembl: ENSG00000155849 |
| Other names | CED12, CED-12, ELMO-1 |
| Summary | This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
| Individual ID | 29217584.03 (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; |