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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Deficiency of coagulation factor VII (F7) Bleeding disorder Autosomal Recessive 13q34 Promotor site F7 -57C>T 0/Borhany et al., 2013
Deficiency of coagulation factor VII (F7) Bleeding disorder Autosomal Recessive 13q34 Missense F7 245G>A Cys82Tyr Amino Acid Substitution 0/Borhany et al., 2013
Deficiency of coagulation factor VII (F7) Bleeding disorder Autosomal Recessive 13q34 Missense F7 965G>C Cys322Ser Amino Acid Substitution 0/Borhany et al., 2013
Deficiency of coagulation factor VII (F7) Bleeding disorder Autosomal Recessive 13q34 Missense F7 1069C>T Leu357Phe Amino Acid Substitution 0/Borhany et al., 2013
Deficiency of coagulation factor VII (F7) Bleeding disorder Autosomal Recessive 13q34 Missense F7 1228A>G Thr410Ala Amino Acid Substitution 0/Borhany et al., 2013
Deficiency of coagulation factor VII (F7) Bleeding disorder Autosomal Recessive 13q34 Missense F7 244T>C Cys82Arg Amino Acid Substitution 0/Borhany et al., 2013
Deficiency of coagulation factor VII (F7) Bleeding disorder Autosomal Recessive 13q34 Missense F7 961C>T Leu321Phe Amino Acid Substitution 0/Borhany et al., 2013
Deficiency of coagulation factor VII (F7) Bleeding disorder Autosomal Recessive 13q34 Missense F7 1109G>T Cys370Phe Amino Acid Substitution 0/Borhany et al., 2013
Deficiency of coagulation factor VII (F7) Bleeding disorder Autosomal Recessive 13q34 Missense F7 1223A>G His408Arg Amino Acid Substitution 0/Borhany et al., 2013