Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
0.820 GeneticVariation BEFREE Molecular studies in this patient demonstrated the uncommon Q22K mutation in the HRAS gene, diagnostic of Costello syndrome. 25668678

2015
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
T 0.820 GeneticVariation CLINVAR Molecular studies in this patient demonstrated the uncommon Q22K mutation in the HRAS gene, diagnostic of Costello syndrome. 25668678

2015
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
T 0.820 GeneticVariation CLINVAR Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel. 17412879

2007
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
0.820 GeneticVariation BEFREE Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel. 17412879

2007
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
0.820 GeneticVariation UNIPROT Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel. 17412879

2007