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(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)
DIIIa-ceS(1-2)-D(3)-ceS(4-7)-DDIVa clusternot reportedhybrid allele1006G>T (G336C)
410C>T (A137V)
455A>C (N152T)
48G>C (W16C)
Hybrid RHCE(2)
Hybrid RHCE[245V](4-7)
2017
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 delEx3 type 1Eurasian D clusternot reportedlarge deletion335+649del10625
2017
RHD(1026insAC)Eurasian D clusternot reportedShort insertion1026insAC
2014
RHD(1067insA)Eurasian D clusternot reportedShort insertion1067insA
2017
RHD(1166delA)Eurasian D clusternot reportedShort deletion1166delA
2013
RHD(1174delA)RHD*01N.66Eurasian D clusternot reportedShort deletion1174delA
RHD(1209delT)Eurasian D clusternot reportedShort deletion1209delT
2014
RHD(124delAA)RHD*01N.65Eurasian D clusternot reportedShort deletion124delAA
RHD(255G>A, 1227G>A,)Eurasian D clusternot reportedSingle missense mutation1227G>A
255G>A (A85A)
2017
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(53dekT)Eurasian D clusternot reportedSingle missense mutation53dekT
2016
RHD(581insG)RHD*01N.75
RHD*581_582insG
Eurasian D clusternot reportedShort insertion581insG
RHD(60L,S230I)RHD*60Eurasian D clusternot reportedSingle missense mutation178A>C (I60L)
689G>T (S230I)
RHD(683del16)Eurasian D clusternot reportedShort deletion683del16
2013
RHD(79delCTC)Eurasian D clusternot reportedIn frame deletion79delCTC
2016
RHD(843G>T)Eurasian D clusternot reportedSilent mutation843G>T
2017
RHD(9393A>C)Eurasian D clusternot reportedSplice site mutationIVS6+3A>C
2017
RHD(939G>C)Eurasian D clusternot reportedSplice site mutation939G>C
2017
RHD(993delC)RHD*01EL.28
RHD*DEL28
Eurasian D clusternot reportedShort deletion993delC
2014
RHD(A137V,N152T)-CE(4-6)-D(7-10)DIVa clusternot reportedhybrid allele410C>T (A137V)
455A>C (N152T)
Hybrid RHCE(4-6)
2016
RHD(A176T)Eurasian D clusternot reportedSingle missense mutation526G>A (A176T)
20152015
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(E340G)Eurasian D clusternot reportedSingle missense mutation1019A>G (E340G)
2013
RHD(E369K)Eurasian D clusternot reportedSingle missense mutationc.1105G>A (Glu369Lys)
2019
RHD(F179S)Eurasian D clusternot reportedSingle missense mutation536T>C (F179S)
2012
RHD(F223V,K267M)weak D type 4 clusternot reportedMultiple missense mutations667T>G (F223V)
800A>T (K267M)
2017
RHD(G151D)Eurasian D clusternot reportedSingle missense mutation452G>A (G151D)
20172017
RHD(G255R)Eurasian D clusternot reportedSingle missense mutation763G>A (G255R)
20122012
RHD(G263L,T379M)DAU clusternot reportedMultiple missense mutations1136C>T (T379M)
787GG>TT (G263L)
2017
RHD(G263R,A399T)Eurasian D clusternot reportedMultiple missense mutations1195G>A (A399T)
787G>A (G263R)
2016
RHD(G307R)Eurasian D clusternot reportedSingle missense mutation919G>C (G307R)
2016
RHD(G308R)Eurasian D clusternot reportedSingle missense mutation922G>A (G308R)
2017
RHD(G353V)Eurasian D clusternot reportedSingle missense mutation1058G>T (G353V)
20122012
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(G381R)Eurasian D clusternot reportedSingle missense mutation1141G>C (G381R)
2017
RHD(G385V)Eurasian D clusternot reportedSingle missense mutation1154G>T (G385V)
2016
RHD(G96R)Eurasian D clusternot reportedSingle missense mutation286G>C (G96R)
2016
RHD(H166D)Eurasian D clusternot reportedSingle missense mutation496C>G (H166D)
2016
RHD(H72P,S73C)Eurasian D clusternot reportedMultiple missense mutations215AC>CA (72H>P)
217A>T (S73C)
2016
RHD(I60L)Eurasian D clusternot reportedSingle missense mutation178A>C (I60L)
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+1G>A)Eurasian D clusternot reportedSplice site mutationIVS7+1G>A
2016
RHD(IVS7-1G>A)RHD*01N.71Eurasian D clusternot reportedSplice site mutationIVS7-1G>A
RHD(IVS7-2A>C)RHD*01N.81
RHD*1074-2C
Eurasian D clusternot reportedSplice site mutationIVS7-2A>C
2011
RHD(IVS9-1G>A)RHD*01N.77
RHD*1228-1A
Eurasian D clusterCDeSplice site mutationIVS9-1G>A
20142014
RHD(K189N,S257F)Eurasian D clusternot reportedMultiple missense mutations567G>T (K189N)
770C>T (S257F)
2016
RHD(K235N)Eurasian D clusternot reportedSingle missense mutation705G>T (K235N)
2017
RHD(K267M)Eurasian D clusternot reportedSingle missense mutation800A>T (K267M)
2016
RHD(L110P)-CE(3-9)-DEurasian D clusterCDeComplex changes329T>C (L110P)
Hybrid RHCE(3-9)
20142014
RHD(L20P)Eurasian D clusternot reportedSingle missense mutation59T>C (L20P)
2017
RHD(L228Q)Eurasian D clusternot reportedSingle missense mutation683T>A (L228Q)
20122012
RHD(L258S)Eurasian D clusternot reportedSingle missense mutation773T>C (L258S)
2017
RHD(L297P)Eurasian D clusternot reportedSingle missense mutation890T>C (L297P)
2016
RHD(L299P)RHD*01N.79
RHD*896C
Eurasian D clusternot reportedSingle missense mutation896T>C (L299P)
2011
RHD(L378P)Eurasian D clusternot reportedSingle missense mutationc.1133T>C (Leu378Pro)
2019
RHD(M155V)Eurasian D clusternot reportedSingle missense mutation463A>G (M155V)
2017
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 (M1?)
2008
RHD(M1_S2insV,T379M)DAU clusternot reportedComplex changes1136C>T (T379M)
3_4insGTG (M1_S2insV)
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(P221R)Eurasian D clusternot reportedSingle missense mutation662C>G (P221R)
2016
RHD(P231L)Eurasian D clusternot reportedSingle missense mutation691CC>TT (P231L)
2016
RHD(P313P)Eurasian D clusternot reportedSplice site mutation939G>A
20122012
RHD(Q89R)Eurasian D clusternot reportedSingle missense mutation266A>G (Q89R)
2014
RHD(R10L)Eurasian D clusternot reportedSingle missense mutation29G>T (R10L)
2015
RHD(R114Q,A399T)Eurasian D clusternot reportedSingle missense mutation1195G>A (A399T)
341G>A (R114Q)
2017
RHD(S112I)RHD*01N.68Eurasian D clusternot reportedSingle missense mutation335G>T (S112I)
2012
RHD(S230I)Eurasian D clusternot reportedSingle missense mutation689G>T (S230I)
2016
RHD(S230N)Eurasian D clusternot reportedSingle missense mutation689G>A (S230N)
2016
RHD(S254L,T379M)DAU clusternot reportedMultiple missense mutations1136C>T (T379M)
761C>T (S254L)
2017
RHD(S266G,V270G)Eurasian D clusternot reportedSingle missense mutation796A>G (S266G)
809T>G (V270G)
2016
RHD(T148R,T195M)Eurasian D clusternot reportedMultiple missense mutations443C>G (T148R)
584C>T (T195M)
2017
RHD(T201R,F223V,K264N,A273A)weak D type 4 clusternot reportedMultiple missense mutations602C>G (T201R)
667T>G (F223V)
792G>T (K264N)
819G>A
2016
RHD(T201R,V270G)Eurasian D clusternot reportedMultiple missense mutations602C>G (T201R)
809T>G (V270G)
2017
RHD(T241P)RHD*01EL.45
RHD*DEL45
Eurasian D clusternot reportedSingle missense mutation721A>C (T241P)
RHD(V147M,A399T)Eurasian D clusternot reportedMultiple missense mutations1195G>A (A399T)
1195G>A (V147M)
2016
RHD(V174M,G307R)Eurasian D clusternot reportedMultiple missense mutations520G>A (V174M)
919G>A (G307R)
2017
RHD(V174M,V306I)Eurasian D clustercDeMultiple missense mutations520G>A (V174M)
916G>A (V306I)
2012
RHD(V245L,G263R,K267M)Eurasian D clusternot reportedMultiple missense mutations733G>C (V245L)
744C>T
787G>A (G263R)
800A>T (K267M)
2017
RHD(V247L)Eurasian D clusternot reportedSingle missense mutation739G>C (V247L)
2017
RHD(V281L)Eurasian D clusternot reportedSingle missense mutation841G>C (V281L)
2016
RHD(V306I,Y311C)Eurasian D clusternot reportedhybrid allele916G>A (V306I)
932A>G (Y311C)
2016
RHD(V319G)Eurasian D clusternot reportedSingle missense mutation956T>G (V319G)
2017
RHD(V352I)Eurasian D clusternot reportedSingle missense mutation1054G>A (V352I)
20122012
RHD(V50D)Eurasian D clusternot reportedSingle missense mutation149T>A (V50D)
2016
RHD(W393X)RHD*01N.76
RHD*1179A
Eurasian D clusternot reportedNonsense mutation1179G>A (W393X)
20142014
RHD(X418S)Eurasian D clusternot reportedLoss of stop codon1253A>C (X418S)
2014
RHD(Y243X)Eurasian D clusternot reportedNonsense mutation729T>A (Y243X)
2017
RHD(Y311C)Eurasian D clusternot reportedSingle missense mutation932A>G (Y311C)
20142014
RHD*5'UTR-115CEurasian D clusternot reporteduntranslated regionIVS0-115A>C
2017
RHD-cE(5-6)-DEurasian D clusternot reportedhybrid alleleHybrid RHcE[226P](5-6)
2015
RHD-ceAG.05(2)-DEurasian D clusternot reportedhybrid allele254C>G (A85G)
744C>T
Hybrid RHCE(2)
2017
RHD-RHCE(2)-RHD(F355S)Eurasian D clusternot reportedComplex changes1063G>A (G355S)
Hybrid RHCE(2)
20122012
RHD-RHCE(5:733-5:787)-RHDEurasian D clusternot reportedSingle missense mutationHybrid RHCE(5:733-5:787)
2016
RHD-RHcE[226P](5:676-5:733)-RHDEurasian D clusternot reportedhybrid alleleHybrud RHcE[226P]/5;676-5:733
2016
RHD-RHCE[245V](5)-RHDEurasian D clusternot reportedhybrid alleleHybrid RHCE[245V](5)
2017
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
weak D type 145RHD* 01W.145
RHD*weak D type 145
Eurasian D clusternot reportedSingle missense mutation41C>G (P14R)