The UMD-DMD France mutations database
2 small rearrangements at position 147

    Request ID: DMD

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Ser147X	c.440C>A	6	147	Actin binding domain		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2124 ---MD_FR#F750660011 M FR 0
p.Ser147X	c.440C>G	6	147	Actin binding domain		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15903 ---MD-US#274 M US 0