The UMD-DMD France mutations database
5 small rearrangements at position 2797

    Request ID: DMD

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg2797Lys	c.8390G>A	56-57	2797	CRD-repeat #22		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17712 ---MD_CN_ORG#DMD_67 M CN 0
	c.IVS56+1delG (c.8390+1delG)	56-57	2797			Small rearrangement	Tv	delG	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8406 ---MD_DE#495A595A-8039-4A1 M DE 0
	c.IVS56+1G>A (c.8390+1G>A)	56-57	2797			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14152 ---MD_RO_DMD2#9 M RO 0
	c.IVS56-1G>A (c.8391-1G>A)	56-57	2797			Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16529 ---MD-US#1337 M US 0 12668 ---MD_JP#20111102-02 M JP 0