SASH1

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

Mutations

Disease/Phenotype	Genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
Reference transcript	NM_015278.3
DNA Change	c.1849G>A
A.A. Change	p.Glu617Lys
Exon/Intron	exon 15
Mutation Type	substitution
Reference	Courcet 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.

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