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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 XIII (F13A) Bleeding disorder Autosomal Recessive 6p25.1 Splice site F13A 1460+1G>A Frame shift mutation & PTC 0/Borhany et al., 2014
Deficiency of coagulation factor XIII (F13A) Bleeding disorder Autosomal Recessive 6p25.1 Splice site F13A 2045 G>A 0/Borhany et al., 2014
Deficiency of coagulation factor XIII (F13A) Bleeding disorder Autosomal Recessive 6p25.1 Nonsense F13A 567T>A Cys188* Premature Termination 0/Borhany et al., 2014
Deficiency of coagulation factor XIII (F13A) Bleeding disorder Autosomal Recessive 6p25.1 Missense F13A 1040C>A Ala346Asp Amino Acid Substitution 0/Borhany et al., 2014
Deficiency of coagulation factor XIII (F13A) Bleeding disorder Autosomal Recessive 6p25.1 Missense F13A 1126T>C Trp375Arg Amino Acid Substitution 0/Borhany et al., 2014
Deficiency of coagulation factor XIII (F13A) Bleeding disorder Autosomal Recessive 6p25.1 Missense F13A 1241C>T Ser413Leu Amino Acid Substitution 0/Borhany et al., 2014
Deficiency of coagulation factor XIII (F13A) Bleeding disorder Autosomal Recessive 6p25.1 Missense F13A G>A Arg326Gln Amino Acid Substitution 0/Aslam et al., 2000