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

Multiple endocrine neoplasia, type IIA

OMIM:171400
Mode of inheritance:Autosomal dominant
Disease classification:Neoplasms


Mutations

Gene SymbolRET
Reference transcriptNM_020975.4
DNA Changec.1901G>A
A.A. Changep.Cys634Tyr
Exon/Intronexon 11
Mutation Typesubstitution
ReferenceBenazzouz B, Chra?bi A, Doghmi Y, El Bacha S, Boutayeb S, Kadiri A, Hilal L.[Characterization of RET proto-oncogene C634Y mutation in a Moroccan family with multiple endocrine neoplasia type 2A].
Ann Endocrinol (Paris). 2006 Mar;67(1):21-6.
Gene SymbolRET
Reference transcriptNM_020975.4
DNA Changec.1902C>G
A.A. Changep.Cys634Trp
Exon/Intronexon 11
Mutation Typesubstitution
ReferenceAbdelhakim A, Barlier A, Kebbou M, Benabdeljalil N, Timinouni M, Taoufiq F, Roche C, El Antri S.RET genetic screening in patients with medullary thyroid cancer: the Moroccan experience.
J Cancer Res Ther. 2009 Jul-Sep;5(3):198-202.
Gene SymbolRET
Reference transcriptNM_020975.4
DNA Changec.1901G>T
A.A. Changep.Cys634Phe
Exon/Intronexon 11
Mutation Typesubstitution
ReferenceAbdelhakim A, Barlier A, Kebbou M, Benabdeljalil N, Timinouni M, Taoufiq F, Roche C, El Antri S.RET genetic screening in patients with medullary thyroid cancer: the Moroccan experience.
J Cancer Res Ther. 2009 Jul-Sep;5(3):198-202.
Gene SymbolRET
Reference transcriptNM_020975.4
DNA Changec.1900T>C
A.A. Changep.Cys634Arg
Exon/Intronexon 11
Mutation Typesubstitution
ReferenceAbdelhakim A, Barlier A, Kebbou M, Benabdeljalil N, Timinouni M, Taoufiq F, Roche C, El Antri S.RET genetic screening in patients with medullary thyroid cancer: the Moroccan experience.
J Cancer Res Ther. 2009 Jul-Sep;5(3):198-202.