The UMD-DMD France mutations database
5 small rearrangements at position 1243

    Request ID: DMD

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu1243AsnfsX10	c.3727_3728delCT	27	1243	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1252	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15193 ---MD_UK#78 M UK 0 8194 ---MD_DE#1FF11933-45DB-4C5 M DE 0 15197 ---MD_UK#80 M UK 0 15195 ---MD_UK#79 M UK 0
p.Thr1244AsnfsX10	c.3728dup	27	1243	CRD-repeat #8		Small rearrangement		Stop at 1253	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7213 ---MD_CN_HOSP#419 M CN 0