ACTL6B, actin like 6B, 51412

N. diseases: 100; N. variants: 7
Disease: Bulbous nose ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0240543
Disease:
Bulbous nose 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019