RHD: Alleles without determined phenotype

DesignationISBT nameClusterHaplotypeMechanismAlterationsFirst mentionDefinitive publication
D186TDIVa clusternot reportedSingle missense mutation186G>T (L62F)
2012
DIIIa150CDIVa clusternot reportedMultiple missense mutations150T>C
186G>T (L62F)
410C>T (A137V)
455A>C (N152T)
602C>G (T201R)
667T>G (F223V)
819G>A
2012
RHD(G336D)Eurasian D clusternot reportedSingle missense mutation1007G>A (G336D)
2011
RHD(G353V)Eurasian D clusternot reportedSingle missense mutation1058G>T (G353V)
2012
RHD(L216F)Eurasian D clusternot reportedSingle missense mutation648G>C (L216F)
2012
RHD(L228Q)Eurasian D clusternot reportedSingle missense mutation683T>A (L228Q)
2012
RHD(L299P)Eurasian D clusternot reportedSingle missense mutation896T>C (L299P)
2011
RHD(P313P)Eurasian D clusternot reportedSplice site mutation939G>A
2012
RHD(S112I)Eurasian D clusternot reportedSingle missense mutation335G>T (S112I)
2012
RHD(V352I)Eurasian D clusternot reportedSingle missense mutation1054G>A (V352I)
2012
RHD(147A>G)Eurasian D clusternot reportedSilent mutation147A>G (Q49Q)
20112012
RHD(1347A>G)Eurasian D clustercDeuntranslated region1347A>G
20032003
RHD(27del13)Eurasian D clusternot reportedShort deletion27del13
2012
D674Eurasian D clusternot reportedSingle missense mutation674C>T (S225F)
20022002
DAU-0.1RHD*10.00.01
RHD*DAU0.01
DAU clustercDeMultiple missense mutations1136C>T (T379M)
579G>A
20032003
DAU-0.2RHD*10.00.02
RHD*DAU0.02
Eurasian D clusternot reportedComplex changes1136C>T (T379M)
150T>C
DAU-12RHD*10.12
RHD*DAU12
DAU clustercDeMultiple missense mutations1136C>T (T379M)
542T>C (L181P)
2012
DAU-13RHD*10.13
RHD*DAU13
DAU clustercDeMultiple missense mutations1136C>T (T379M)
48G>C (W16C)
2013
DBO-3Eurasian D clusternot reportedSingle missense mutation968C>A (P323H)
2006
DIII type 4.2RHD*03.04.02
RHD*DII.04.02
Eurasian D clusternot reportedhybrid allele186G>T (L62F)
307T>C (S103P)
410C>T (A137V)
455A>C (N152T)
DIV(S103P)DIVa clustercDeMultiple missense mutations186G>T (L62F)
307T>C (S103P)
410C>T (A137V)
455A>C (N152T)
2013
DIVa-likeRHD*04.01.02Eurasian D clusternot reportedhybrid allele1048G>C (D350H)
186G>T (L62F)
410C>T (A137V)
455A>C (N152T)
667T>G (F223V)
DMARHD*35
RHD*DMA
Eurasian D clustercDeSingle missense mutation621G>C (L207F)
20032003
RHD(1026insAC)Eurasian D clusternot reportedShort insertion1026insAC
2014
RHD(1166delA)Eurasian D clusternot reportedShort deletion1166delA
2013
RHD(1209delT)Eurasian D clusternot reportedShort deletion1209delT
2014
RHD(201A,203A,1136T)DAU clusternot reportedMultiple missense mutations1136C>T (T379M)
201G>A
203G>A (S68N)
2014
RHD(356de11)Eurasian D clusternot reportedShort deletion356del11
2012
RHD(384T>C)Eurasian D clusternot reportedSilent mutation384T>C
RHD(396insGG)Eurasian D clusternot reportedShort insertion396insGG
2016
RHD(510insG)Eurasian D clusternot reportedShort insertion510insG
2015
RHD(60L,S230I)RHD*60Eurasian D clusternot reportedSingle missense mutation178A>C (I60L)
689G>T (S230I)
RHD(683del16)Eurasian D clusternot reportedShort deletion683del16
2013
RHD(A237D)Eurasian D clusternot reportedSingle missense mutation710C>A (A237D)
2010
RHD(D350H)Eurasian D clusternot reportedSingle missense mutation1048G>C (D350H)
2013
RHD(D40G)Eurasian D clusternot reportedSingle missense mutation119A>G (D40G)
2016
RHD(delEx10)Eurasian D clusternot reportedlarge deletiondelEx10
20122012
RHD(E340G)Eurasian D clusternot reportedSingle missense mutation1019A>G (E340G)
2013
RHD(F179S)Eurasian D clusternot reportedSingle missense mutation536T>C (F179S)
2012
RHD(G132R) [RHD*394C]Eurasian D clusternot reportedSingle missense mutation394G>C (G132R)
2016
RHD(G255R)Eurasian D clusternot reportedSingle missense mutation763G>A (G255R)
2012
RHD(G307R)Eurasian D clusternot reportedSingle missense mutation919G>C (G307R)
2016
RHD(G368R)Eurasian D clusternot reportedSingle missense mutation1102G>A (G368R)
2014
RHD(G368W,D404E)Eurasian D clusternot reportedMultiple missense mutations1102G>T (G368W)
1212C>A (D404E)
2015
RHD(H166D)Eurasian D clusternot reportedSingle missense mutation496C>G (H166D)
2016
RHD(H260Q)Eurasian D clusternot reportedSingle missense mutation780C>A (H260Q)
2016
RHD(I60V,S103P,F161S,L214F)Eurasian D clusternot reportedMultiple missense mutations178A>G (I60V)
307T>C (S103P)
482T>C (F161S)
640C>T (L214F)
966T>C
2012
RHD(IVS4+1G>A)Eurasian D clusternot reportedSplice site mutationIVS4+1G>A
2012
RHD(IVS4+2T>A)Eurasian D clusternot reportedSplice site mutationIVS4+2T>A
2012
RHD(IVS5+2T>A)Eurasian D clusternot reportedSplice site mutation2012
RHD(IVS5-41delCTCT)Eurasian D clusternot reportedIntron polymorphism2012
RHD(IVS7-2A>C)Eurasian D clusternot reportedSplice site mutationIVS7-2A>C
2011
RHD(IVS9-1G>A)Eurasian D clusterCDeSplice site mutationIVS9-1G>A
20142014
RHD(K198N,T201R,F223V)weak D type 4 clusternot reportedMultiple missense mutations594A>T (K198N)
602C>G (T201R)
667T>G (F223V)
819G>A
2016
RHD(L390P)Eurasian D clusternot reportedSingle missense mutation1169T>C (L390P)
2016
RHD(M1T)Eurasian D clustercDELoss of start codon2T>C (M1T)
20152015
RHD(M1V,T379M)RHD*10.15
RHD*DAU15
DAU clusternot reportedComplex changes1136C>T (T379M)
1A>G (M1V)
2008
RHD(N135D)Eurasian D clusternot reportedSingle missense mutation403A>G (N135D)
2014
RHD(N152T,V270G)RHD*62Eurasian D clusternot reportedMultiple missense mutations455A>C (N152T)
809T>G (V270G)
2014
RHD(N240H)Eurasian D clusternot reportedSingle missense mutation718A>C (N240H)
2014
RHD(P14L)Eurasian D clusternot reportedSingle missense mutation41C>T (P14L)
2016
RHD(P221R)Eurasian D clusternot reportedSingle missense mutation662C>G (P221R)
2016
RHD(P231L)Eurasian D clusternot reportedSingle missense mutation691CC>TT (P231L)
2016
RHD(P291S)Eurasian D clusternot reportedSingle missense mutation871C>T (P291S)
2016
RHD(Q89R)Eurasian D clusternot reportedSingle missense mutation266A>G (Q89R)
2014
RHD(R10L)Eurasian D clusternot reportedSingle missense mutation29G>T (R10L)
2015
RHD(T148R)Eurasian D clusternot reportedSingle missense mutation443C>G (T148R)
2012
RHD(T201R,F223V,G355S)weak D type 4 clusternot reportedMultiple missense mutations1063G>A (G355S)
602C>G (T201R)
667T>G (F223V)
819G>A
2016
RHD(T241P)RHD*01EL.45
RHD*DEL45
Eurasian D clusternot reportedSingle missense mutation721A>C (T241P)
RHD(V174M,V306I)Eurasian D clustercDeMultiple missense mutations520G>A (V174M)
916G>A (V306I)
2012
RHD(V281L)Eurasian D clusternot reportedSingle missense mutation841G>C (V281L)
2016
RHD(V50D)Eurasian D clusternot reportedSingle missense mutation149T>A (V50D)
2016
RHD(W393X)Eurasian D clusternot reportedNonsense mutation1179G>A (W393X)
20142014
RHD(X418S)Eurasian D clusternot reportedLoss of stop codon1253A>C (X418S)
2014
RHD-cE(5-6)-DEurasian D clusternot reportedhybrid alleleHybrid RHcE[226P](5-6)
2015
RHDpsi-OT1weak D type 4 clustercDeComplex changes609G>A
654G>C (M218I)
667T>G (F223V)
674C>T (S225F)
835G>A (V279M)
IVS3-19 dupl 37
IVS7-214ins ACAG
2012