ISTH mutations

Advanced search

Search for:     Any field VWD Classification Exon No Nucleotide Change Amino Acid Substitution Alleles Functional Studies Country Laboratory Comments Reference Ref.   Contains Equals Starts with ... More than ... Less than ... Equal or more than ... Equal or less than ... Empty

Details found: 589 Page 1 of 59

Records Per Page: 10 20 30 50 100 500

Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
18	40	Type 3	Exon 18 deletion	?	?	Italy	Schneppenheim	1 index patient is heterozygous for Delta C in exon 18 (2,5 % of Italian VWD typ More ...
18	16	Type 3	Exon 18 deletion	?	?	Poland	Schneppenheim	4 index patients are homozygous for Delta C in exon 18, 4 index patients are het More ...
28	108	Type 3	4092delAC	1364 frameshift to terminus	No	India	Federici/Mannucci	Patient compound heterozygous with mutation 7130insC.	Baronciani et al, 2003
28	108	Type 3	4414insC	1472 frameshift to terminus	No	India	Federici/Mannucci	Patient compound heterozygous with mutation 3379+1G>A.	Baronciani et al, 2003
28		Type 3	4635delG	1545 frameshift to terminus	No	Germany	Schneppenheim		Schneppenheim et al., 1994
28	2	Type 1	4637-4645del9	1546-1548del3	No	Canada	Lillicrap		James et al., 2007
28		Type 3	4886delG	1629 frameshift to terminus	?	Germany	Schneppenheim	Patient was heterozygous.	Schneppenheim et al, 1994
28		Type 3	4971insC	1657 frameshift to terminus	No	Sweden		1 heterozygous patient in 1 type 3 family. Mutation not identified in any other More ...	Zhang et al., 1994
36	108	Type 3	6182delT	2061 frameshift to terminus	No	Italy	Federici/Mannucci	Patient homozygous for the deletion and of consanguineous descent.	Baronciani et al, 2000
42	108	Type 3	7130insC	2377 frameshift to terminus	No	India	Federici/Mannucci	Two patients homozygous for the insertion and one compound heterozygous with del More ...	Baronciani et al, 2003