Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Fanconi anemia, complementation group A

OMIM:227650
Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolFANCA
Reference transcriptNM_000135.2
DNA Changec.4275delT
A.A. Changep.Asp1427ThrfsX6
Exon/Intronexon 43
Mutation Typedeletion
ReferenceTamary H, Bar-Yam R, Shalmon L, Rachavi G, Krostichevsky M, Elhasid R, Barak Y, Kapelushnik J, Yaniv I, Auerbach AD, Zaizov R.Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.
Br J Haematol. 2000 Oct;111(1):338-43.
Gene SymbolFANCA
Reference transcriptNM_000135.2
DNA Changec.2172_2173insG
A.A. Changep.Ser725ValfsX69
Exon/Intronexon 24
Mutation Typeinsertion
ReferenceTamary H, Bar-Yam R, Shalmon L, Rachavi G, Krostichevsky M, Elhasid R, Barak Y, Kapelushnik J, Yaniv I, Auerbach AD, Zaizov R.Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.
Br J Haematol. 2000 Oct;111(1):338-43.