The UMD-SKIV2L mutations database
Mutations associated with phenotype: Cardiac disease

    Request ID: 1

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gly631Ser	c.1891G>A	17	631			Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 26 LEE30094 Male Heterozygous CHINA 5 28 LEE40095 Male Heterozygous CHINA 6
	c.IVS18-1G>C (c.2203-1G>C)	19	735			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 35 BIC10104 Female Heterozygous U.S.A. 14
p.Glu1038ValfsX7	c.3112_3140del	25	1038			Small rearrangement	Fr.	Stop at 1044	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15 KARA0043 Male Homozygous GREECE 1
p.Arg1063X	c.3187C>T	26	1063			Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 36 BIC10104 Female Heterozygous U.S.A. 14 10 MENJU0037 Female Homozygous FRANCE 1 27 LEE30094 Male Heterozygous CHINA 5 29 LEE40095 Male Heterozygous CHINA 6