ISTH mutations
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Exon No
Alleles
VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
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Promoter 218 Type 1 -1896C>T N/A No EU MCMDM-1VWD 103 control samples were screened for this mutation. It was found to be absent f More ... Goodeve et al., 2007
Promoter 208 Type 1 -2731C>T N/A No EU MCMDM-1VWD This mutation was identified in 1/200 screened control alleles. Goodeve et al., 2007
Promoter 2 Type 1 -1522del CATTGTTTCCTTT N/A No Canada Lillicrap James et al., 2007
Promoter 202 Type 1 -1522del CATTGTTTCCTTT N/A No EU MCMDM-1VWD 101 control samples were screened for this mutation. It was found to be absent f More ...
Promoter 2 Type 1 -1665G>C N/A No Canada Lillicrap James et al., 2007
Promoter 204 Type 1 -1665G>C N/A No EU MCMDM-1VWD 102 control samples were screened for this mutation. It was found to be absent f More ...
Promoter 2 Type 1 -1873A>G N/A No Canada Lillicrap James et al., 2007
Promoter 206 Type 1 -1873A>G N/A No EU MCMDM-1VWD 103 control samples were screened for this mutation. It was found to be absent f More ...
Promoter 206 Type 1 -1886A>C N/A No EU MCMDM-1VWD 103 control samples were screened for this mutation. It was found to be absent f More ...
Promoter 208 Type 1 -2328T>G N/A No EU MCMDM-1VWD 100 control samples were screened for this mutation. It was found to be absent f More ... Goodeve et al., 2007