| Variant ID | 1672 |
|---|---|
| Entrez Gene ID | 23266 |
| Gene | ADGRL2 (GeneCards) |
| Location | hg19 1:83262810-83262810
hg38 1:82797127-82797127 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.83262810 A>G (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.082 |
| CADD Raw score (version 1.3) | 0.284426 (Deleterious) |
| FATHMM raw prediction score | 0.15832 (Tolerated) |
| Deleterious probability by DeFine | 0.5463 (Deleterious) |
| Entrez Gene ID | 23266 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADGRL2 (GeneCards) |
| Number of variants in ADGRL2 in this database | 15 (view all the variants) |
| Full name | adhesion G protein-coupled receptor L2 |
| Band | 1p31.1 |
| Other IDs | Vega: OTTHUMG00000009844 OMIM: 607018 HGNC: HGNC:18582 Ensembl: ENSG00000117114 |
| Other names | CL2, LEC1, CIRL2, LPHH1, LPHN2 |
| Summary | This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors. The encoded protein participates in the regulation of exocytosis. The proprotein is thought to be further cleaved within a cysteine-rich G-protein-coupled receptor proteolysis site into two chains that are non-covalently bound at the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] |
| 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; |