The UMD-DMD France mutations database
6 small rearrangements at position 2131

    Request ID: DMD

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gln2131AsnfsX3	c.6391_6392delCA	44	2131	CRD-repeat #17		Small rearrangement	Fr.	Stop at 2133	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15311 ---MD_UK#137 M UK 0 7845 ---MD_CN_HOSP#95 M CN 0 17676 ---MD_CN_ORG#DMD_55 M CN 0 16327 ---MD-US#978 M US 0
p.Gln2131HisfsX33	c.6391_6392dup	44	2131	CRD-repeat #17		Small rearrangement	Fr.	Stop at 2163	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17043 ---MD-US#2394 M US 0
p.Gln2131HisfsX3	c.6393_6394delAA	44	2131	CRD-repeat #17		Small rearrangement	Fr.	Stop at 2133	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17175 ---MD-US#2731 M US 0