Disease: Constitutional Mismatch Repair Deficiency Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780062
rs587780062
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C4321324
Disease:
Constitutional Mismatch Repair Deficiency Syndrome 		0.010 GeneticVariation BEFREE We describe the clinical and molecular features in the patient harboring this novel alteration c.505C>G, who meets clinical criteria for CMMRD and exhibits molecular evidence supporting a diagnosis of CMMRD. 27017610 2016