ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
Disease: Macrothrombocytopenia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907348
rs387907348
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C2751260
Disease:
Macrothrombocytopenia 		T 0.710 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs387907348
rs387907348
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C2751260
Disease:
Macrothrombocytopenia 		0.710 GeneticVariation BEFREE Candidate gene analysis complemented by targeted next-generation sequencing identified a missense mutation (c.137GA; p.Arg46Gln) in the alpha-actinin 1 gene (ACTN1) that segregated with macrothrombocytopenia in this large pedigree. 24069336 2013
dbSNP: rs387907345
rs387907345
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C2751260
Disease:
Macrothrombocytopenia 		T 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs387907350
rs387907350
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C2751260
Disease:
Macrothrombocytopenia 		T 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs387907349
rs387907349
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C2751260
Disease:
Macrothrombocytopenia 		A 0.700 GeneticVariation CLINVAR