Unique variants in gene AGA

Information The variants shown are described using the NM_000027.3 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.18C>A likely benign r.(?) p.(Asn6Lys) g.178363512G>T - AGA:NM_000027.3:c.18C>A, NM_001171988.1:c.18C>A - AGA_000040 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 01 c.34G>T - r.(34g>u) p.(Val12Leu) g.178363496C>A g.177442342C>A c.34G>T - AGA_000012 1 more item PubMed: Saarela et al. 2001 - rs74626221 SUMMARY record yes - - - - Anne Polvi
+/+ 1 01 c.44T>G - r.(44u>g) p.(Leu15Arg) g.178363486A>C g.177442332A>C - - AGA_000016 1 Finnish AGU patient (com-het) PubMed: Saarela et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 01 c.102_108delGCCCTTT - r.102_108delgcccuuu p.Trp34* g.178363422_178363428delAAAGGGC g.177442268_177442274delAAAGGGC 7-bp deletion (nt 102-108) - AGA_000003 1 English AGU patient (het) + 2 English sibs (het) with AGU PubMed: Ikonen et al. 1991, PubMed: Park et al. 1993 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 01-02 c.127_128insATGCGG - c.127_127+1insATGCGG p.Ala42_Ala43insAspAla g.178363402_178363403insCCGCAT - ins 6 bp after G127 - AGA_000004 1 more item PubMed: Ikonen et al. 1991 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.127+25C>T benign r.(=) p.(=) g.178363378G>A - AGA:c.127+25C>T - AGA_000039 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., +/+ 2 02 c.179G>A likely pathogenic r.(?), r.179g>a p.(Gly60Asp), p.Gly60Asp g.178361529C>T g.177440375C>T AGA:c.179G>A (G60D) - AGA_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 German AGU patient PubMed: Ikonen et al. 1991 - rs121964907 CLASSIFICATION record, SUMMARY record yes - - - - VKGL-NL_Groningen, Anne Polvi
+/+ 1 02 c.192T>A - r.192u>a p.Cys64* g.178361516A>T g.177440362A>T - - AGA_000006 1 Puerto Rican AGU family PubMed: Peltola et al. 1994 - - SUMMARY record yes - - - - Anne Polvi
+/. 1 - c.200_201del pathogenic r.(?) p.(Glu67Alafs*3) g.178361507_178361508del - AGA:c.200_201delAG (E67Afs*3) - AGA_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 02 c.200_201delAG - r.200_201delag p.Glu67Alafs*3 g.178361507_178361508del g.177440353_177440354delCT c.199_200delGA - AGA_000007 7 Finnish AGU families PubMed: Isoniemi et al. 1995 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 02 c.214T>C - r.214u>c p.Ser72Pro g.178361494A>G g.177440340A>G - - AGA_000008 4 Arab AGU families PubMed: Peltola et al. 1996 - rs121964909 SUMMARY record yes - - - - Anne Polvi
-/. 2 - c.281+13T>G benign r.(=) p.(=) g.178361414A>C - AGA:c.281+13T>G - AGA_000038 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/+ 1 03 c.299G>A - r.(299g>a) p.(Gly100Glu) g.178360825C>T g.177439671C>T - - AGA_000009 2 Canadian sibs PubMed: Laitinen et al. 1997 - - SUMMARY record yes - - - - Anne Polvi
+?/., +/+ 2 03 c.302C>T likely pathogenic r.(?), r.302c>u p.(Ala101Val), p.Ala101Val g.178360822G>A g.177439668G>A AGA:c.302C>T (A101V) - AGA_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Ikonen et al. 1991, PubMed: Park et al. 1993 - rs121964908 CLASSIFICATION record, SUMMARY record yes - - - - VKGL-NL_Groningen, Anne Polvi
+?/., +/., +/+ 3 03 c.336del likely pathogenic, pathogenic r.(?), r.336del p.(Ile112Metfs*16), p.Ile112Metfs*16 g.178360788del g.177439634del AGA:c.336delT (I112Mfs*16) - AGA_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 Dutch AGU patient PubMed: Ikonen et al. 1991 - - CLASSIFICATION record, SUMMARY record yes - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, Anne Polvi
+/+? 1 03 c.346C>T - r.(346c>u) p.(Arg116Trp) g.178360778G>A g.177439624G>A - - AGA_000031 3 Turkish siblings (hom) with AGU PubMed: Opladen et al. 2014 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 03 c.369_373del - r.369_373del p.His124Thrfs*19 g.178360751_178360755del g.177439597_177439601del 5 bp deletion (ACACA) nt 367-371, 367_371del: T123fsX142 - AGA_000013 1 American AGU patient PubMed: Park et al. 1993, PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 03 c.373_376del - r.(373_376del) p.(Thr125Phefs*2) g.178360748_178360751del g.177439594_177439597del 372_375del - AGA_000014 1 Pakistani AGU patient PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
+?/. 1 03 c.392C>T - r.(?) p.(Ser131Leu) g.178360732G>A g.177439578G>A - - AGA_000033 1 Chinese patient with AGU (het) PubMed: Liu et al. 2014 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 i03 c.395-8A>G - r.394_395insucuccag p.? g.178360019T>C g.177438865T>C - - AGA_000029 1 Japanese AGU patient PubMed: Yoshida et al. 1991, PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 04 c.404T>C - r.(404u>c) p.(Phe135Ser) g.178360002A>G g.177438848A>G - - AGA_000015 2 Canadian sibs (com-het) with AGU PubMed: Laitinen et al. 1997 - - SUMMARY record yes - - - - Anne Polvi
+/+? 1 04 c.439T>C - r.(439u>c) p.(Ser147Pro) g.178359967A>G g.177438813A>G - - AGA_000030 2 Qatari siblings (hom) with AGU PubMed: Opladen et al. 2014 - - SUMMARY record yes - - - - Anne Polvi
-/. 2 - c.446C>G benign r.(?) p.(Thr149Ser) g.178359960G>C - AGA:c.446C>G (T149S) - AGA_000037 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
+/., ?/?, ?/. 3 04 c.482G>A pathogenic r.(?), r.482g>a p.(Arg161Gln), p.Arg161Gln g.178359924C>T g.177438770C>T AGA:c.482G>A (R161Q) - AGA_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Ikonen et al. 1991, PubMed: Syvänen et al. 1992, PubMed: Saarela et al. 2001 - rs192195150 CLASSIFICATION record, SUMMARY record, Germline yes - - - - VKGL-NL_Groningen, Anne Polvi, Gerard C.P. Schaafsma
+/., ?/., +/+ 3 04 c.488G>C pathogenic r.(?), r.488g>c p.(Cys163Ser), p.Cys163Ser g.178359918C>G g.177438764C>G AGA:c.488G>C (C163S), AGU FIN - AGA_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Ikonen et al. 1991, PubMed: Syvänen et al. 1992, PubMed: Saarela et al. 2001 - rs121964904 CLASSIFICATION record, Germline, SUMMARY record yes - - - - VKGL-NL_Groningen, Gerard C.P. Schaafsma, Anne Polvi
+/+ 1 04 c.503G>A - r.(503g>a) p.(Trp168*) g.178359903C>T g.177438749C>T - - AGA_000018 1 British AGU patient (com-het) PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.622+13T>C likely benign r.(=) p.(=) g.178358546A>G - AGA:c.622+13T>C - AGA_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.645A>G likely benign r.(=) p.(=) g.178357483T>C - AGA:c.645A>G (=) - AGA_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 1 06 c.677G>A - r.[677g>a, del751_826] p.[Gly226Asp, p.Ala251*] g.178357451C>T g.177436297C>T G677→A and exon 6 skipping - AGA_000019 2 Canadian AGU patients (hom) PubMed: Coulter-Mackie et al. 1999 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.699-25G>C benign r.(=) p.(=) g.178355668C>G - AGA:c.699-25G>C - AGA_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 07 c.754G>C - r.(754g>c) p.(Gly252Arg) g.178355588C>G g.177434434C>G - - AGA_000020 1 Italian AGU patient (hom) PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 07 c.755G>A - r.(755g>a) p.(Gly252Glu) g.178355587C>T g.177434433C>T - - AGA_000021 1 Finnish AGU patient (com-het) PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 07 c.770C>T - r.(770c>u) p.(Thr257Ile) g.178355572G>A g.177434418G>A - - AGA_000022 1 Finnish AGU patient (com-het) PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 07 c.788delT - r.788delu p.Leu263* g.178355554delA g.177434400delA delta T788 - AGA_000023 1 Mauritanian AGU patient (hom) PubMed: Park et al. 1996 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 07 c.800dup - r.800dupu p.Pro268Alafs*52 g.178355542dup g.177434388dup ins T after T800 - AGA_000024 1 Spanish-American AGU patient PubMed: Ikonen et al. 1991 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 08 c.904G>A - r.904g>a p.Gly302Arg g.178354404C>T g.177433250C>T - - AGA_000025 1 Turkish AGU patient (hom) PubMed: Ikonen et al. 1991 - rs121964905 SUMMARY record yes - - - - Anne Polvi
+/+ 1 08 c.916T>C - r.916u>c p.Cys306Arg g.178354392A>G g.177433238A>G - - AGA_000026 1 American AGU patient (hom) PubMed: Ikonen et al. 1991 - rs121964906 SUMMARY record yes - - - - Anne Polvi
+/+ 1 i08 c.940+1G>T - r.[=, 935_1068del] p.[=, 935_*27del] g.178354367C>A g.177433213C>A GT-to-TT transversion at the splice donor site of intron 8 - AGA_000027 1 more item PubMed: Fisher et al. 1991 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 i08 c.941-148_*1920del - r.spl p.? g.178350942_178353110del g.177429788_177431956del - - AGA_000028 1 North American AGU patient PubMed: Jalanko et al. 1995 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 09 c.1000G>T - r.(1000g>u) p.(Glu334*) g.178352903C>A g.177431749C>A - - AGA_000032 1 more item PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
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