The UMD-DMD France mutations database
3 small rearrangements at position 494

    Request ID: DMD

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Lys494SerfsX24	c.1481_1482delAG	12	494	CRD-repeat #2		Small rearrangement	Fr.	Stop at 517	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12162 ---MD_JP#20100831-01 M JP 0
	c.IVS12+1G>T (c.1482+1G>T)	12	494			Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17017 ---MD-US#2350 M US 0 2610 ---MD_FR#F3428716121 M FR 0