Unique variants in the ASPA gene

Information The variants shown are described using the NM_000049.2 transcript reference sequence.

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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-4479_-4478del r.(?) p.(=) - likely benign g.3374975_3374976del g.3471681_3471682del SPATA22(NM_001170698.1):c.-74+2_-74+3del (p.(=)) - ASPA_018109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 4 _1_6_ c.0 r.0? p.0? - pathogenic (recessive) g.(?_3379453)_(3402383_?)del - ex1-6 del, 92 kb ex1-6del, 74 kb ex1-6del+TRPV3del - ASPA_018102, ASPA_018104, ASPA_018105 439kb del, 706 chr17:3324311chr17:3324311_3398497del(hg18) PubMed: 19932039, PubMed: 16854607, PubMed: 22019069 - - Germline - - - - - Gajja Salomons
+/+ 2 2i, 3 c.?del r.(?) p.(?) - pathogenic (recessive) g.? - 190 bp del, 3346 bp del - ASPA_018100, ASPA_018101 c.432+708_526+2261del PubMed: 11238686, PubMed: 18978679 - - Germline - - - - - Gajja Salomons
+/+ 1 1 c.2T>C r.(?) p.0? - pathogenic (recessive) g.3379455T>C g.3476161T>C - - ASPA_018106 - PubMed: 20129749 - - Germline - - - - - Gajja Salomons
+/+ 1 1 c.10delinsGG r.(?) p.(Cys4Glyfs*5) - pathogenic (recessive) g.3379463delinsGG g.3476169delinsGG 10T>G;c.11insG - ASPA_000006 - PubMed: 12638939 - - Germline - - - - - Gajja Salomons
-?/. 1 - c.10T>C r.(?) p.(Cys4Arg) - likely benign g.3379463T>C g.3476169T>C ASPA(NM_000049.3):c.10T>C (p.C4R) - ASPA_008009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 1 c.32del r.(?) p.(Ile11Asnfs*15) - pathogenic (recessive) g.3379485del g.3476191del - - ASPA_018032 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - - - Gajja Salomons
+/+ 1 1 c.34_46del r.(?) p.(Gln12Serfs*10) - pathogenic (recessive) g.3379487_3379499del g.3476193_3476205del c.33del13 - ASPA_018021 - PubMed: 12638939 - - Germline - - - - - Gajja Salomons
+/+ 1 1 c.41T>G r.(?) p.(Val14Gly) - pathogenic (recessive) g.3379494T>G g.3476200T>G - - ASPA_018107 - PubMed: 16854607 - - Germline - - - - - Gajja Salomons
+/+ 2 1 c.47T>C r.(?) p.(Ile16Thr) - pathogenic (recessive) g.3379500T>C g.3476206T>C - - ASPA_018033 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - - - Gajja Salomons
+/+ 1 1 c.52G>A r.(?) p.(Gly18Arg) - pathogenic (recessive) g.3379505G>A g.3476211G>A - - ASPA_018074 - PubMed: 16802711 - - Germline - - - - - Gajja Salomons
+/+ 1 1 c.62A>C r.(?) p.(His21Pro) - pathogenic (recessive) g.3379515A>C g.3476221A>C - - ASPA_018028 - PubMed: 10909858 - - Germline - - - - - Gajja Salomons
+/+ 1 1 c.71A>G r.(?) p.(Glu24Gly) - pathogenic (recessive) g.3379524A>G g.3476230A>G - - ASPA_018010 - PubMed: 12638939 - - Germline - - - - - Gajja Salomons
+/+, ?/. 22 1 c.79G>A r.(?) p.(Gly27Arg) - pathogenic (recessive), VUS g.3379532G>A g.3476238G>A ASPA(NM_000049.3):c.79G>A (p.G27R) - ASPA_018016 in vitro defic. of ASPA, VKGL data sharing initiative Nederland PubMed: 8659549 - - Germline, CLASSIFICATION record - - - - - Gajja Salomons, VKGL-NL_Rotterdam
+/+ 1 1 c.169G>A r.(?) p.(Ala57Thr) - pathogenic (recessive) g.3379622G>A g.3476328G>A - - ASPA_018029 - PubMed: 10909858 - - Germline - - - - - Gajja Salomons
+/+ 1 1 c.170C>T r.(?) p.(Ala57Val) - pathogenic (recessive) g.3379623C>T g.3476329C>T - - ASPA_018045 - - - - Germline - - - - - Gajja Salomons
+/+ 1 1 c.203A>C r.(?) p.(Asp68Ala) - pathogenic (recessive) g.3379656A>C g.3476362A>C - - ASPA_018012 - PubMed: 12638939 - - Germline - - - - - Gajja Salomons
+/+ 1 1 c.209A>G r.(?) p.(Asn70Ser) - pathogenic (recessive) g.3379662A>G g.3476368A>G - - ASPA_018108 - PubMed: 20129749 - - Germline - - - - - Gajja Salomons
+/+ 1 1 c.212G>A r.(?) p.(Arg71His) - pathogenic (recessive) g.3379665G>A g.3476371G>A - - ASPA_018075 - PubMed: 16437572 - - Germline - - - - - Gajja Salomons
+/+ 1 1i c.237-2A>T r.spl p.? - pathogenic (recessive) g.3384895A>T g.3481601A>T IVS1-2A>T - ASPA_018025 extra 40 nucl. Intron1 PubMed: 12638939 - - Germline - - - - - Gajja Salomons
+/+ 1 1i_6_ c.(236+1_237-1)_(*1_?)del r.(?) p.(?) - pathogenic (recessive) g.(3379690_3384896)_(3402383 _?)del - 56 kb intr.1-3'UTR del - ASPA_018103 - PubMed: 16854607 - - Germline - - - - - Gajja Salomons
+/+ 1 2 c.244del r.(?) p.(Met82Cysfs*9) - pathogenic (recessive) g.3384904del g.3481610del c.244delA - ASPA_018022 - PubMed: 12638939 - - Germline - - - - - Gajja Salomons
+/+ 4 2 c.244dup r.(?) p.(Met82Asnfs*8) - pathogenic (recessive) g.3384904dup g.3481610dup c.245insA, c.244_245insA - ASPA_018020 - PubMed: 10407784, PubMed: 10909858, PubMed: 12638939 - - Germline - - - - - Gajja Salomons
?/. 1 - c.260C>T r.(?) p.(Pro87Leu) - VUS g.3384920C>T g.3481626C>T ASPA(NM_000049.2):c.260C>T (p.(Pro87Leu)) - ASPA_008010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 2 2 c.302G>T r.(?) p.(Gly101Val) - pathogenic (recessive) g.3384962G>T g.3481668G>T - - ASPA_018047 - - - - Germline - - - - - Gajja Salomons
+/+ 1 2 c.327T>G r.(?) p.(Tyr109*) - pathogenic (recessive) g.3384987T>G g.3481693T>G - - ASPA_018076 - PubMed: 10407784 - - Germline - - - - - Gajja Salomons
+/+ 1 2 c.340G>T r.(?) p.(Asp114Tyr) - pathogenic (recessive) g.3385000G>T g.3481706G>T - - ASPA_018077 - PubMed: 12205125 - - Germline - - - - - Gajja Salomons
+/+ 1 2 c.342C>A r.(?) p.(Asp114Glu) - pathogenic (recessive) g.3385002C>A g.3481708C>A - - ASPA_018034 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - - - Gajja Salomons
+/+ 1 2 c.362A>T r.(?) p.(Asn121Ile) - pathogenic (recessive) g.3385022A>T g.3481728A>T - - ASPA_018078 - PubMed: 16854607 - - Germline - - - - - Gajja Salomons
+/+ 1 2 c.368G>A r.(?) p.(Gly123Glu) - pathogenic (recessive) g.3385028G>A g.3481734G>A - - ASPA_018035 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - - - Gajja Salomons
+/+ 1 2 c.382del r.(?) p.(Glu129Argfs*8) - pathogenic (recessive) g.3385042del g.3481748del c.382delC - ASPA_018092 - PubMed: 16854607 - - Germline - - - - - Gajja Salomons
+/+ 1 2 c.427A>T r.(?) p.(Ile143Phe) - pathogenic (recessive) g.3385087A>T g.3481793A>T - - ASPA_018080 - PubMed: 16854607 - - Germline - - - - - Gajja Salomons
+/+ 1 2 c.428T>C r.(?) p.(Ile143Thr) - pathogenic (recessive) g.3385088T>C g.3481794T>C - - ASPA_018079 - PubMed: 9452117 - - Germline - - - - - Gajja Salomons
+/+ 1 2i c.432+1G>A r.(?) p.? - pathogenic (recessive) g.3385093G>A g.3481799G>A - - ASPA_018091 - PubMed: 17999961 - - Germline - - - - - Gajja Salomons
+/+, +/. 2 2i c.433-2A>G r.spl, r.spl? p.? - pathogenic (recessive), pathogenic g.3386791A>G g.3483497A>G IVS2-2A>G, ASPA(NM_000049.3):c.433-2A>G - ASPA_018007, ASPA_008011 aberrant ASPA, VKGL data sharing initiative Nederland PubMed: 8023850 - - Germline, CLASSIFICATION record - - - - - Gajja Salomons, VKGL-NL_Groningen
+/+ 1 2i c.433-1G>A r.spl p.? - pathogenic (recessive) g.3386792G>A g.3483498G>A - - ASPA_018096 - - - - Germline - - - - - Gajja Salomons
+/+ 1 2i_5i c.(432+1_433-1)_(744+1_745-1)del r.? p.? - pathogenic (recessive) g.(3385093_3386792)_(3397754_3402184)del - del exon 3-5 - ASPA_018099 - PubMed: 16854607 - - Germline - - - - - Gajja Salomons
+/+ 1 3 c.455G>A r.(?) p.(Cys152Tyr) - pathogenic (recessive) g.3386815G>A g.3483521G>A - - ASPA_018036 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - - - Gajja Salomons
+/+ 1 3 c.456C>G r.(?) p.(Cys152Trp) - pathogenic (recessive) g.3386816C>G g.3483522C>G - - ASPA_018014 - PubMed: 12638939 - - Germline - - - - - Gajja Salomons
+/+ 1 3 c.497C>T r.(?) p.(Thr166Ile) - pathogenic (recessive) g.3386857C>T g.3483563C>T - - ASPA_018082 - PubMed: 16854607 - - Germline - - - - - Gajja Salomons
+/+ 5 3 c.502C>T r.(?) p.(Arg168Cys) - pathogenic (recessive) g.3386862C>T g.3483568C>T - - ASPA_018037 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - - - Gajja Salomons
+/+ 11 3 c.503G>A r.(?) p.(Arg168His) - pathogenic (recessive) g.3386863G>A g.3483569G>A - - ASPA_018031 Loss of ASPA activity PubMed: 10909858 - - Germline - - - - - Gajja Salomons
?/. 3 - c.509T>C r.(?) p.(Ile170Thr) - VUS g.3386869T>C g.3483575T>C ASPA(NM_000049.3):c.509T>C (p.I170T) - ASPA_008015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/+ 1 4 c.527_532del r.(?) p.(Gly176_Ile177del) - pathogenic (recessive) g.3392529_3392534del g.3489235_3489240del c.527del6 - ASPA_018097 - PubMed: 7668285 - - Germline - - - - - Gajja Salomons
+/+ 2 3i_4i c.(526+1_527-1)_(634+1_635-1)del r.(?) p.? - pathogenic (recessive) g.(3386887_3392528)_(3392637_3397643)del - del ex 4 - ASPA_018070 - PubMed: 10909858 - - Germline - - - - - Gajja Salomons
+/+ 4 4 c.541C>A r.(?) p.(Pro181Thr) - pathogenic (recessive) g.3392543C>A g.3489249C>A - - ASPA_018011 Loss of ASPA activity PubMed: 12638939 - - Germline - - - - - Gajja Salomons
+/+ 1 4 c.542C>T r.(?) p.(Pro181Leu) - pathogenic (recessive) g.3392544C>T g.3489250C>T - - ASPA_018083 - PubMed: 16854607 - - Germline - - - - - Gajja Salomons
+/+ 1 4 c.550C>T r.(?) p.(Gln184*) - pathogenic (recessive) g.3392552C>T g.3489258C>T - - ASPA_018017 - PubMed: 12638939 - - Germline - - - - - Gajja Salomons
+/+ 1 4 c.584T>G r.(?) p.(Met195Arg) - pathogenic (recessive) g.3392586T>G g.3489292T>G - - ASPA_018084 - PubMed: 10407784 - - Germline - - - - - Gajja Salomons
+/+ 1 4i c.635-1G>C r.spl p.? - pathogenic (recessive) g.3397643G>C g.3494349G>C IVS4-1G>C - ASPA_018081 - PubMed: 16854607 - - Germline - - - - - Gajja Salomons
+/+ 1 4i_5i c.(634+1_635-1)_(744+1_745-1)del r.? p.? - pathogenic (recessive) g.(3392637_3397643)_(3397754_3402184)del - del exon 5 - ASPA_018098 - PubMed: 10407784 - - Germline - - - - - Gajja Salomons
+/+ 1 5 c.637A>G r.(?) p.(Lys213Glu) - pathogenic (recessive) g.3397646A>G g.3494352A>G - - ASPA_018085 - PubMed: 16138249 - - Germline - - - - - Gajja Salomons
+/+ 1 5 c.640G>T r.(?) p.(Glu214*) - pathogenic (recessive) g.3397649G>T g.3494355G>T - - ASPA_018018 - PubMed: 12638939 - - Germline - - - - - Gajja Salomons
+/+ 1 5 c.677T>C r.(?) p.(Ile226Thr) - pathogenic (recessive) g.3397686T>C g.3494392T>C - - ASPA_018086 - PubMed: 18280251 - - Germline - - - - - Gajja Salomons
+/+ 1 5 c.692A>G r.(?) p.(Tyr231Cys) - pathogenic (recessive) g.3397701A>G g.3494407A>G - - ASPA_018087 - PubMed: 10564886 - - Germline - - - - - Gajja Salomons
+/+, ?/., +/. 6 5 c.693C>A r.(?) p.(Tyr231*), p.(Tyr231Ter) - pathogenic (recessive), VUS, pathogenic g.3397702C>A g.3494408C>A ASPA(NM_000049.3):c.693C>A (p.Y231*) - ASPA_018005, ASPA_008005 compl. loss of ASPA act., VKGL data sharing initiative Nederland PubMed: 8023850 - - Germline, CLASSIFICATION record - - - - - Gajja Salomons, Gerard C.P. Schaafsma, VKGL-NL_Groningen
+/. 1 - c.693C>G r.(?) p.(Tyr231Ter) - pathogenic g.3397702C>G g.3494408C>G ASPA(NM_000049.3):c.693C>G (p.Y231*) - ASPA_008013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.693C>T r.(?) p.(Tyr231=) - benign g.3397702C>T g.3494408C>T ASPA(NM_000049.3):c.693C>T (p.Y231=) - ASPA_008012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 2 5 c.697dup r.(?) p.(Arg233Profs*3) - pathogenic (recessive) g.3397706dup g.3494412dup c.698insC - ASPA_018023 - PubMed: 12638939 - - Germline - - - - - Gajja Salomons
-/. 1 - c.703G>A r.(?) p.(Glu235Lys) - benign g.3397712G>A g.3494418G>A ASPA(NM_000049.3):c.703G>A (p.E235K) - ASPA_008014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 5 c.731A>G r.(?) p.(His244Arg) - pathogenic (recessive) g.3397740A>G g.3494446A>G - - ASPA_018015 - PubMed: 12638939 - - Germline - - - - - Gajja Salomons
+/+ 1 5 c.731A>T r.(?) p.(His244Leu) - pathogenic (recessive) g.3397740A>T g.3494446A>T - - ASPA_018088 - PubMed: 16854607 - - Germline - - - - - Gajja Salomons
+/+ 2 6 c.746A>T r.(?) p.(Asp249Val) - pathogenic (recessive) g.3402186A>T g.3498892A>T - - ASPA_018013 - PubMed: 12638939 - - Germline - - - - - Gajja Salomons
?/., +/+ 2 6 c.820G>A r.(?) p.(Gly274Arg) - VUS, pathogenic (recessive) g.3402260G>A g.3498966G>A - - ASPA_018089 - PubMed: Riazuddin 2017, PubMed: 7668285 - - Germline - - - - - Johan den Dunnen, Gajja Salomons
+/+ 1 6 c.827_828del r.(?) p.(Cys276Tyrfs*9) - pathogenic (recessive) g.3402267_3402268del g.3498973_3498974del c.827delGT - ASPA_018093 - PubMed: 7668285 - - Germline - - - - - Gajja Salomons
-/. 2 - c.831C>T r.(=) p.(=) - benign g.3402271C>T g.3498977C>T - - ASPA_018113 35 heterozygous; Clinindb (India), 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs78677072 Germline - 35/2795 individuals, 1/2795 individuals - - - Mohammed Faruq
+/+ 1 6 c.839C>T r.(?) p.(Pro280Leu) - pathogenic (recessive) g.3402279C>T g.3498985C>T - - ASPA_018090 - PubMed: 10407784 - - Germline - - - - - Gajja Salomons
-?/. 1 - c.840C>T r.(?) p.(Pro280=) - likely benign g.3402280C>T g.3498986C>T ASPA(NM_000049.3):c.840C>T (p.P280=) - ASPA_018112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +/+, ?/. 5 6 c.854A>C r.(?) p.(Glu285Ala) - pathogenic, pathogenic (recessive), VUS g.3402294A>C g.3499000A>C ASPA(NM_000049.3):c.854A>C (p.E285A) - ASPA_008006, ASPA_018006 VKGL data sharing initiative Nederland, 2,5% act. of wt ASPA PubMed: 12638939 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, Gajja Salomons, Gerard C.P. Schaafsma
+/+ 3 6 c.859G>A r.(?) p.(Ala287Thr) - pathogenic (recessive) g.3402299G>A g.3499005G>A - - ASPA_018027 - PubMed: 12638939 - - Germline - - - - - Gajja Salomons
+/+ 3 6 c.863A>G r.(?) p.(Tyr288Cys) - pathogenic (recessive) g.3402303A>G g.3499009A>G - - ASPA_018039 - PubMed: 22750302 - - Germline - - - - - Gajja Salomons
+/+ 2 6 c.876_879del r.(?) p.(Glu293Leufs*8) - pathogenic (recessive) g.3402316_3402319del g.3499022_3499025del c.876delAGAA - ASPA_018009 in vitro defic. of ASPA PubMed: 12638939 - - Germline - - - - - Gajja Salomons
+/+ 1 6 c.884T>C r.(?) p.(Phe295Ser) - pathogenic (recessive) g.3402324T>C g.3499030T>C - - ASPA_018038 absent ASPA mRNA PubMed: 22750302 - - Germline - - - - - Gajja Salomons
+/+, ?/., +/. 65 6, 8 c.914C>A r.(?) p.(Ala305Glu) - pathogenic (recessive), VUS, pathogenic g.3402354C>A g.3499060C>A ASPA(NM_000049.3):c.914C>A (p.A305E) - ASPA_018008, ASPA_008008 Loss of ASPA activity, VKGL data sharing initiative Nederland PubMed: 8023850 - - Germline, CLASSIFICATION record - - - - - Gajja Salomons, Gerard C.P. Schaafsma, VKGL-NL_Groningen
+/+ 2 6 c.924del r.(?) p.(Arg309Alafs*22) - pathogenic (recessive) g.3402364del g.3499070del c.923delT - ASPA_018019 - PubMed: 12638939 - - Germline - - - - - Gajja Salomons
+/+ 1 6 c.941A>G r.(?) p.(*314Trpext*45) - pathogenic (recessive) g.3402381A>G g.3499087A>G - - ASPA_018024 - PubMed: 12638939 - - Germline - - - - - Gajja Salomons
-?/. 1 - c.*14932T>A r.(=) p.(=) - likely benign g.3417314T>A g.3514020T>A TRPV3(NM_001258205.1):c.2279-6A>T (p.(=)) - ASPA_018110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.*19650G>A r.(=) p.(=) - benign g.3422032G>A g.3518738G>A TRPV3(NM_001258205.1):c.1923C>T (p.D641=) - TRPV3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*19691C>T r.(=) p.(=) - likely benign g.3422073C>T g.3518779C>T TRPV3(NM_001258205.1):c.1882G>A (p.(Ala628Thr)) - ASPA_018111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.*19695G>A r.(=) p.(=) - benign g.3422077G>A g.3518783G>A TRPV3(NM_001258205.1):c.1878C>T (p.S626=) - TRPV3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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