ANTXR2
Gene name: anthrax toxin receptor 2OMIM ID: 608041
Chromosome location: 4q21.21
Mutations
| Disease/Phenotype | Hyaline fibromatosis syndrome |
|---|---|
| Reference transcript | NM_058172.5 |
| DNA Change | c.1074delT |
| A.A. Change | p.Ala359Hisfs*50 |
| Exon/Intron | exon 13 |
| Mutation Type | deletion |
| Reference | Jaouad IC, Guaoua S, Hajjioui A, Sefiani A.Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report. J Med Case Rep. 2014 Sep 3;8:291. |