The UMD-DMD France mutations database
6 small rearrangements at position 983

    Request ID: DMD

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gln983X	c.2947C>T	22	983	CRD-repeat #6		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10611 ---MD_IT#175 M IT 0
p.Gln983His	c.2949G>C	22	983	CRD-repeat #6		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8140 ---MD_DE#143F2398-AD4B-40C M AT 0
p.Gln983His	c.2949G>T	22	983	CRD-repeat #6		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15149 ---MD_UK#56 M UK 0
	c.IVS22+1G>T (c.2949+1G>T)	22	983			Small rearrangement	Tv	G->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3034 ---MD_FR#F3427615591 M FR 0 3038 ---MD_FR#F755757011 M FR 0 3036 ---MD_FR#F757621011 M FR 0