Unique variants in gene AMN

Information The variants shown are described using the NM_030943.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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 01 c.14delG - r.14del p.Gly5Alafs*12 g.103389039delG g.102922702delG - - AMN_000001 3 Norwegian MGA1 families. PubMed: Tanner et al. 2003 - - SUMMARY record yes 0/177 CON - - - Anne Polvi
+?/+? 1 i01 c.43+1G>T - r.spl? p.? g.103389069G>T g.102922732G>T - - AMN_000007 1 English–Israeli (Jewish Ashkenazi) MGA1 patient (com-het) PubMed: Luder et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 02 c.122C>T - r.122c>u p.Thr41Ile g.103390126C>T g.102923789C>T - - AMN_000002 1 Norwegian MGA1 family PubMed: Tanner et al. 2003 - rs119478058 SUMMARY record yes 0/177 CON - - - Anne Polvi
+/+ 1 i03 c.208-2A>G - r.208_295del p.Leu70Alafs*100 g.103394761A>G g.102928424A>G - - AMN_000003 ~18 MGA1 families of mostly Eastern Mediterranean origin 1 more item - - SUMMARY record yes 0/177 CON - - - Anne Polvi
+/+ 1 i03 c.208-1G>C - r.spl? p.? g.103394762G>C g.102928425G>C - - AMN_000004 1 Turkish MGA1 family (hom) PubMed: Tanner et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 04 c.295delG - r.(295delg) p.(Gly99Alafs*100) g.103394850delG g.102928513delG p.Gly98fs - AMN_000010 1 Yemen MGA1 family (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
?/. 1 - c.297C>A VUS r.(=) p.(=) g.103395096C>A - AMN:NM_030943.3(AMN):c.297C>A (= (Gly99Gly) - AMN_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.300del pathogenic r.(?) p.(Glu100Aspfs*99) g.103395099del - AMN:NM_030943.3(AMN):c.300del (Glu100Aspfs*99) - AMN_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 05 c.468dupT - r.(468dupu) p.(Gly157Trpfs*3) g.103395267dup g.102928930dupT c.468_469insT - AMN_000011 1 French MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 i05 c.514-34G>A - r.(513_514ins32bp) p.Thr172fs g.103395424G>A g.102929087G>A new splice site leading to c.513_514ins32bp; p.Thr172fs - AMN_000013 1 Turkish MGA1 family (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 06 c.663G>A - r.(663g>a) p.(Trp221*) g.103395776G>A g.102929439G>A - - AMN_000014 1 Thai MGA1 patient (hom) PubMed: Densupsoontorn et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 07 c.683_730del - r.(683_730del) p.(Gln228_Leu243del) g.103395796_103395843del g.102929459_102929506del - - AMN_000006 1 American MGA1 family PubMed: Tanner et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 07 c.701G>T - r.(701g>u) p.(Cys234Phe) g.103395814G>T g.102929477G>T - - AMN_000008 1 English–Israeli (Jewish Ashkenazi) MGA1 patient (com-het) PubMed: Luder et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 07 c.742C>T - r.(742c>u) p.(Gln248*) g.103395855C>T g.102929518C>T - - AMN_000009 2 Turkish siblings with MGA1 PubMed: Namour et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 07 c.761G>A - r.(761g>a) p.(Gly254Glu) g.103395992G>A g.102929655G>A - - AMN_000015 1 Turkish MGA1 family (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 09-12 c.967_1169+15del - r.? p.? g.103396384_103396679del g.102930047_102930342del c.967_(1169+15)del296bp - AMN_000016 1 Czech MGA1 patient (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 09 c.974_977dupCCCG - r.(974_977dupcccg) p.(Ala327Profs*184) g.103396391_103396394dup g.102930054_102930057dupCCCG c.977_978insCCCG - AMN_000017 1 Czech MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 i09 c.1006+16_1006+30del - r.? p.? g.103396439_103396453del g.102930102_102930116del c.1006+16_30del15bp - AMN_000018 2 Jemen brothers (hom) with MGA1 PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 i09 c.1006+34_1007-31del - r.(844_1006del) p.(Pro282Alafs*78) g.103396457_103396471del g.102930120_102930134del c.1006+34_48del15bp > Exon 9 skipping - AMN_000012 5 MGA1 families (2 French, 1 Spanish, 1 Hispanic and 1 Sudan) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 i09 c.1006+36_1007-29del - r.? p.? g.103396459_103396473del g.102930122_102930136del c.1006+36_50del15bp - AMN_000019 1 Belgian MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 09 c.1014_1021delCCTCGGCG - r.(1014_1021delccucggcg) p.(Leu339Profs*168) g.103396509_103396516delCCTCGGCG g.102930172_102930179delCCTCGGCG - - AMN_000020 2 MGA1 families: 1 Guatemalan (Mayan)/USA and 1 Guatemala (Mayan)/Ireland origin PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
-?/., +?/+? 2 i10 c.1170-6C>T likely benign r.(=), r.spl? p.(=), p.? g.103396737C>T g.102930400C>T AMN:NM_006035.3:c.*3312G>A, NM_030943.3:c.1170-6C>T - AMN_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 Finnish MGA1 family (het) PubMed: Tanner et al. 2012 - - CLASSIFICATION record, SUMMARY record yes - - - - VKGL-NL_Leiden, Anne Polvi
+/+ 1 11 c.1253dupA - r.(1253dupa) p.(Leu419Alafs*91) g.103396826dup g.102930489dupA c.1253_1254insA - AMN_000005 1 Belgian MGA1 family (het) PubMed: Tanner et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 i11 c.1257+10C>T - r.spl? p.? g.103396840C>T g.102930503C>T - - AMN_000022 1 Maroccan MGA1 patient PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 12 c.1314_1315delCA - r.(1314_1315delca) p.(His438Glnfs*71) g.103396969_103396970delCA g.102930632_102930633delCA - - AMN_000023 2 European MGA1 families PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
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