The UMD-DMD France mutations database
2 small rearrangements at position 2792

    Request ID: DMD

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Lys2792X	c.8374A>T	56	2792	CRD-repeat #22		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18422 ---MD_CZ_SK#MD-B-032 M CZ 0
p.Lys2792ValfsX5	c.8374_8375delAA	56	2792	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2796	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6574 ---MD_FR#F69120122MA1 M FR 0