Splice site mutation

DesignationISBT nameHaplotypePhenotypeClusterAlterationsFirst mentionDefinitive publication
RHD(1227G>A)RHD*01EL.01
RHD*DEL1
CDeDELEurasian D cluster1227G>A
20012001
RHD(IVS1+1G>T)RHD*01EL.31
RHD*DEL31
cDEDELEurasian D clusterIVS1+1G>T
20142014
RHD(IVS1+1G>A)RHD*01EL.05
RHD*DEL5
not reportedDELEurasian D clusterIVS1+1G>A
2001
RHD(IVS1+5G>C)RHD*01EL.21
RHD*DEL21
not reportedDELEurasian D clusterIVS1+5G>C
2013
RHD(IVS2+1G>A)RHD*01N.24not reportedD negativeEurasian D clusterIVS2+1G>A
20072007
RHD(IVS2-1G>A)RHD*01N.25CDeD negativeEurasian D clusterIVS2-1G>A
20052005
RHD(IVS2-2A>G)RHD*01EL.33
RHD*DEL33
not reportedDELEurasian D clusterIVS2-2A>G
20112011
RHD(IVS3+1G>A)RHD*01EL.08
RHD*DEL8
CDeDEL
D negative
Eurasian D clusterIVS3+1G>A
20012001
RHD(IVS3+2T>A)RHD*01EL.09
RHD*DEL9
cDED negativeEurasian D clusterIVS3+2T>A
20082009
RHD(IVS3+5G>A)not reportedweakened D expressionEurasian D clusterIVS3+5G>A
20072007
RHD(IVS4+1G>A)not reportedEurasian D clusterIVS4+1G>A
2012
RHD(IVS4+1G>T,1136C>T)RHD*01N.69not reportedD negativeDAU cluster1136C>T (T379M)
IVS4+1G>T
RHD(IVS4+2T>A)not reportedEurasian D clusterIVS4+2T>A
2012
RHD(IVS4+5G>T)RHD*01EL.14
RHD*DEL14
not reportedweakened D expressionEurasian D clusterIVS4+5G>T
2010
RHD(IVS4-2A>C)RHD*54cDEPartial DEurasian D clusterIVS4-2A>C
20142014
RHD(IVS4-2A>G)RHD*01EL.19
RHD*DEL19
not reportedweakened D expressionEurasian D clusterIVS4-2A>G
20102011
RHD(IVS5+1G>A)RHD*01N.54not reportedD negativeEurasian D clusterIVS5+1G>A
2012
RHD(IVS5+2T>A)not reportedEurasian D cluster2012
RHD(IVS6+1G>A)RHD*01N.55CDeD negativeEurasian D clusterIVS6+1G>A
20142014
RHD(IVS6+2T>A)RHD*01N.38not reportedD negativeEurasian D clusterIVS6+2T>A
2013
RHD(IVS6-4A>C)not reportedweakened D expressionEurasian D clusterIVS6-4A>C
2012
RHD(IVS7+152C>A,1227G>A)RHD*01EL.36
RHD*DEL36
CDeDELEurasian D cluster1227G>A
IVS7+152C>A
20022002
RHD(IVS7+1G>T)RHD*01N.70not reportedD negativeEurasian D clusterIVS7+1G>T
RHD(IVS7+2T>C)RHD*01N.56not reportedD negativeEurasian D clusterIVS7+2T>C
2012
RHD(IVS7-1G>A)RHD*01N.71not reportedEurasian D clusterIVS7-1G>A
RHD(IVS7-2A>C)RHD*01N.81not reportedEurasian D clusterIVS7-2A>C
2011
RHD(IVS8+1G>A)RHD*01N.26CDeD negativeEurasian D clusterIVS8+1G>A
20012001
RHD(IVS8+6T>C)cDEweakened D expressionEurasian D cluster2012
RHD(IVS8-8T>A)RHD*01EL.20
RHD*DEL20
not reportedweakened D expressionEurasian D clusterIVS8-8T>A
20072007
RHD(IVS9-1G>A)RHD*01N.77CDeEurasian D clusterIVS9-1G>A
20142014
RHD(P313P)not reportedEurasian D cluster939G>A
2012
weak D type 28RHD*01W.28
RHD*weak D type 28
not reportedweak D type
weakened D expression
Eurasian D cluster1152A>C (T384T)
2002
weak RHD(6345G>A)CDeweakened D expressionEurasian D clusterIVS4+5G>A
2009
weak RHD(IVS3+3G>C)not reportedweakened D expressionEurasian D clusterIVS3+3G>C
2008