ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Infantile myofibromatosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0432284
Disease:
Infantile myofibromatosis 		0.010 GeneticVariation BEFREE She underwent whole-exome sequencing (WES) as part of the FORGE study to identify the gene for infantile myofibromatosis; however a de novo dominant mutation in ACVR1 (NM_001105.4:c.617G>A) revised the diagnosis to FOP. 25899773 2015