| Variant ID | 2702 |
|---|---|
| Entrez Gene ID | 64123 |
| Gene | ADGRL4 (GeneCards) |
| Location | hg19 1:80463043-80463043
hg38 1:79997358-79997358 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.80463043 C>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000646 |
|---|---|
| EIGEN score | 0.11 |
| CADD Raw score (version 1.3) | 0.113513 (Deleterious) |
| FATHMM raw prediction score | 0.17689 (Tolerated) |
| Deleterious probability by DeFine | 0.3683 (Neutral) |
| Entrez Gene ID | 64123 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADGRL4 (GeneCards) |
| Number of variants in ADGRL4 in this database | 19 (view all the variants) |
| Full name | adhesion G protein-coupled receptor L4 |
| Band | 1p31.1 |
| Other IDs | Vega: OTTHUMG00000009738 OMIM: 616419 HGNC: HGNC:20822 Ensembl: ENSG00000162618 |
| Other names | ETL, ELTD1, KPG_003 |
| Summary | None |
| 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; |