MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Retinitis Pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35689081
rs35689081
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0035334
Disease:
Retinitis Pigmentosa 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs527236085
rs527236085
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0035334
Disease:
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs371483693
rs371483693
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE In the Cuban family, we detected two different mutations: a severe course of the retinal disease was observed in individuals homozygous for what is probably a truncating splice-site mutation (c.4488G-->C), whereas mild RP is present in individuals carrying the homozygous missense mutation R1746Q. 11138009 2001