The UMD-DMD France mutations database
12 small rearrangements at position 2553

    Request ID: DMD

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg2553X	c.7657C>T	52	2553	CRD-repeat #20		Small rearrangement	Ts	C->T	12
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6374 ---MD_FR#F757370011 M FR 0 18420 ---MD_CZ_SK#MD-B-050 M CZ 0 15803 ---MD_UK#384 M UK 0 11392 ---MD_JP#20090929-04 M JP 0 6370 ---MD_FR#F69160194m1 M FR 0 18810 ---MD_NZ#179 M NZ 0 6372 ---MD_FR#F3428415861 M FR 0 8044 ---MD_DE#05DFB9CC-2462-4FC M DE 0 9572 ---MD_ES1#SEL M ES 0 8242 ---MD_DE#2793B627-0B45-449 M DE 0 6378 ---MD_FR#F750504011 M FR 0 6376 ---MD_FR#F754630011 M FR 0