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

SASH1

Gene name: SAM and SH3 domain containing 1
OMIM ID: 607955
Chromosome location: 6q24.3

Mutations

Disease/PhenotypeGenodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
Reference transcriptNM_015278.3
DNA Changec.1849G>A
A.A. Changep.Glu617Lys
Exon/Intronexon 15
Mutation Typesubstitution
ReferenceCourcet JB, Elalaoui SC, Duplomb L, Tajir M, Rivière JB, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton MH, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L.Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
Eur J Hum Genet. 2015 Jul;23(7):957-62.