| Variant ID | 7262 |
|---|---|
| Entrez Gene ID | 118429 |
| Gene | ANTXR2 (GeneCards) |
| Location | hg19 4:80933308-80933308
hg38 4:80012154-80012154 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.80933308 G>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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0.4887 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs7662083 |
| EIGEN score | 0.2018 |
| CADD Raw score (version 1.3) | 0.245149 (Deleterious) |
| FATHMM raw prediction score | 0.16531 (Tolerated) |
| Deleterious probability by DeFine | 0.2999 (Neutral) |
| Entrez Gene ID | 118429 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ANTXR2 (GeneCards) |
| Number of variants in ANTXR2 in this database | 5 (view all the variants) |
| Full name | ANTXR cell adhesion molecule 2 |
| Band | 4q21.21 |
| Other IDs | Vega: OTTHUMG00000151982 OMIM: 608041 HGNC: HGNC:21732 Ensembl: ENSG00000163297 |
| Other names | HFS, ISH, JHF, CMG2, CMG-2 |
| Summary | This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
| Individual ID | 29217584.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |