Full data view for gene AGA

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

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Reference     

dbSNP ID     

Germline/Somatic/De novo     

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VIP     

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Panel size     

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+/+ 01 c.34G>T - r.(34g>u) p.(Val12Leu) Unknown g.178363496C>A - c.34G>T - AGA_000012 1 Italian AGU patient (het); Double mutation c.34G>T + c.1000G>T in one allele, which one is causative is unclear PubMed: Saarela et al. 2001 rs74626221 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 01 c.44T>G - r.(44u>g) p.(Leu15Arg) Paternal (confirmed) g.178363486A>C - - - AGA_000016 1 Finnish AGU patient (com-het) PubMed: Saarela et al. 2004 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 01 c.102_108delGCCCTTT - r.102_108delgcccuuu p.Trp34* Unknown g.178363422_178363428delAAAGGGC - 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 - - - - - - - - - - - - - - - - - - - - - -
+/+ 01-02 c.127_128insATGCGG - c.127_127+1insATGCGG p.Ala42_Ala43insAspAla Unknown g.178363402_178363403insCCGCAT - ins 6 bp after G127 - AGA_000004 1 Tunisian AGU patient; Inserted ATGCGG sequence is not found in normal intron 01, changes in intron 01 leading to this insertion are unknown PubMed: Ikonen et al. 1991 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 02 c.179G>A - r.179g>a p.Gly60Asp Unknown g.178361529C>T - - - AGA_000005 1 German AGU patient PubMed: Ikonen et al. 1991 rs121964907 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 02 c.192T>A - r.192u>a p.Cys64* Both (homozygous) g.178361516A>T - - - AGA_000006 1 Puerto Rican AGU family PubMed: Peltola et al. 1994 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 02 c.200_201delAG - r.200_201delag p.Glu67Alafs*3 Both (homozygous) g.178361507_178361508del - c.199_200delGA - AGA_000007 7 Finnish AGU families PubMed: Isoniemi et al. 1995 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 02 c.214T>C - r.214u>c p.Ser72Pro Both (homozygous) g.178361494A>G - - - AGA_000008 4 Arab AGU families PubMed: Peltola et al. 1996 rs121964909 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 03 c.299G>A - r.(299g>a) p.(Gly100Glu) Parent #1 g.178360825C>T - - - AGA_000009 2 Canadian sibs PubMed: Laitinen et al. 1997 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 03 c.302C>T - r.302c>u p.Ala101Val Unknown g.178360822G>A - - - AGA_000010 1 Italian (hom) and 1 English (com-het) AGU patient PubMed: Ikonen et al. 1991, PubMed: Park et al. 1993 rs121964908 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 03 c.336del - r.336del p.Ile112Metfs*16 Both (homozygous) g.178360788del - - - AGA_000011 1 Dutch AGU patient PubMed: Ikonen et al. 1991 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+? 03 c.346C>T - r.(346c>u) p.(Arg116Trp) Unknown g.178360778G>A - - - AGA_000031 3 Turkish siblings (hom) with AGU PubMed: Opladen et al. 2014 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 03 c.369_373del - r.369_373del p.His124Thrfs*19 Unknown g.178360751_178360755del - 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 - - - - - - - - - - - - - - - - - - - - - -
+/+ 03 c.373_376del - r.(373_376del) p.(Thr125Phefs*2) Both (homozygous) g.178360748_178360751del - 372_375del - AGA_000014 1 Pakistani AGU patient PubMed: Saarela et al. 2001 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/. 03 c.392C>T - r.(?) p.(Ser131Leu) Paternal (confirmed) g.178360732G>A - - - AGA_000033 1 Chinese patient with AGU (het) PubMed: Liu et al. 2014 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ i03 c.395-8A>G - r.394_395insucuccag p.? Both (homozygous) g.178360019T>C - - - AGA_000029 1 Japanese AGU patient PubMed: Yoshida et al. 1991, PubMed: Saarela et al. 2001 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 04 c.404T>C - r.(404u>c) p.(Phe135Ser) Unknown g.178360002A>G - - - AGA_000015 2 Canadian sibs (com-het) with AGU PubMed: Laitinen et al. 1997 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+? 04 c.439T>C - r.(439u>c) p.(Ser147Pro) Both (homozygous) g.178359967A>G - - - AGA_000030 2 Qatari siblings (hom) with AGU PubMed: Opladen et al. 2014 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.482G>A - r.(?) p.(Arg161Gln) Both (homozygous) g.178359924C>T - - - AGA_000001 - - - Germline - - - 0 - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/? 04 c.482G>A - r.482g>a p.Arg161Gln Unknown g.178359924C>T - - - AGA_000001 Finnish variant; On the same haplotype with Finnish Major mutation. PubMed: Ikonen et al. 1991, PubMed: Syvänen et al. 1992, PubMed: Saarela et al. 2001 rs192195150 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488G>C - r.(?) p.(Cys163Ser) Both (homozygous) g.178359918C>G - - - AGA_000002 - - - Germline - - - 0 - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 04 c.488G>C - r.488g>c p.Cys163Ser Both (homozygous) g.178359918C>G - AGU FIN - AGA_000002 Finnish Major AGU mutation, in 98% of Finnish AGU patients; Finnish Major AGU mutation. On the same haplotype with c.482G>A (p.Arg161Gln) PubMed: Ikonen et al. 1991, PubMed: Syvänen et al. 1992, PubMed: Saarela et al. 2001 rs121964904 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 04 c.503G>A - r.(503g>a) p.(Trp168*) Unknown g.178359903C>T - - - AGA_000018 1 British AGU patient (com-het) PubMed: Saarela et al. 2001 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 06 c.677G>A - r.[677g>a, del751_826] p.[Gly226Asp, p.Ala251*] Both (homozygous) g.178357451C>T - G677→A and exon 6 skipping - AGA_000019 2 Canadian AGU patients (hom) PubMed: Coulter-Mackie et al. 1999 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 07 c.754G>C - r.(754g>c) p.(Gly252Arg) Both (homozygous) g.178355588C>G - - - AGA_000020 1 Italian AGU patient (hom) PubMed: Saarela et al. 2001 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 07 c.755G>A - r.(755g>a) p.(Gly252Glu) Unknown g.178355587C>T - - - AGA_000021 1 Finnish AGU patient (com-het) PubMed: Saarela et al. 2001 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 07 c.770C>T - r.(770c>u) p.(Thr257Ile) Unknown g.178355572G>A - - - AGA_000022 1 Finnish AGU patient (com-het) PubMed: Saarela et al. 2001 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 07 c.788delT - r.788delu p.Leu263* Both (homozygous) g.178355554delA - delta T788 - AGA_000023 1 Mauritanian AGU patient (hom) PubMed: Park et al. 1996 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 07 c.800dup - r.800dupu p.Pro268Alafs*52 Both (homozygous) g.178355542dup - ins T after T800 - AGA_000024 1 Spanish-American AGU patient PubMed: Ikonen et al. 1991 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 08 c.904G>A - r.904g>a p.Gly302Arg Both (homozygous) g.178354404C>T - - - AGA_000025 1 Turkish AGU patient (hom) PubMed: Ikonen et al. 1991 rs121964905 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 08 c.916T>C - r.916u>c p.Cys306Arg Both (homozygous) g.178354392A>G - - - AGA_000026 1 American AGU patient (hom) PubMed: Ikonen et al. 1991 rs121964906 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ i08 c.940+1G>T - r.[=, 935_1068del] p.[=, 935_*27del] Both (homozygous) g.178354367C>A - GT-to-TT transversion at the splice donor site of intron 8 - AGA_000027 1 African-American AGU patient (hom); Mutation almost completely eliminate splicing at the exon 8/intron 8 border and causes exon 8 skipping. PubMed: Fisher et al. 1991 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ i08 c.941-148_*1920del - r.spl p.? Unknown g.178350942_178353110del - - - AGA_000028 1 North American AGU patient PubMed: Jalanko et al. 1995 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 09 c.1000G>T - r.(1000g>u) p.(Glu334*) Unknown g.178352903C>A - - - AGA_000032 1 Italian AGU patient (het); Double mutation c.34G>T + c.1000G>T in one allele, which one is causative is unclear PubMed: Saarela et al. 2001 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
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