All transcript variants in gene ARG1

Information The variants shown are described using the NM_000045.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

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.32T>C - r.(?) p.(ile11Thr) g.131894454T>C g.131573314T>C - - ARG1_000011 - PubMed: Uchino 1995, OMIM:var0008 - - Germline - - - 0 - Johan den Dunnen
+?/. 1 c.32T>C - r.(?) p.(ile11Thr) g.131894454T>C g.131573314T>C - - ARG1_000011 E.coli expression cloning yields 12% protein activity PubMed: Uchino 1995, OMIM:var0008 - - Germline - - - 0 - Johan den Dunnen
+?/. 1 c.32T>C - r.(?) p.(ile11Thr) g.131894454T>C g.131573314T>C - - ARG1_000011 - - - rs28941474 Germline - - - 0 - Johan den Dunnen
+/. 1i c.57+1G>A - r.spl? p.? g.131894480G>A g.131573340G>A IVS1+1G>A - ARG1_000013 - PubMed: Uchino 1995, OMIM:var0010 - - Germline - - - 0 - Johan den Dunnen
+/. 1i c.57+1G>A - r.spl? p.? g.131894480G>A g.131573340G>A IVS1+1G>A - ARG1_000013 sporadic, consanguineous parents PubMed: Uchino 1995, OMIM:var0010 - - Germline - - - 0 - Johan den Dunnen
+/. 1i c.57+1G>A - r.spl? p.? g.131894480G>A g.131573340G>A IVS1+1G>A - ARG1_000013 sporadic, consanguineous parents PubMed: Uchino 1995, OMIM:var0010 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.61C>T - r.(spl?) p.(Arg21*) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - Johan den Dunnen
+/. 2 c.61C>T - r.(spl?) p.(Arg21*) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - Johan den Dunnen
+/. 2 c.61C>T - r.(spl?) p.(Arg21*) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - Johan den Dunnen
+/. 2 c.61C>T - r.(spl?) p.(Arg21*) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - Johan den Dunnen
+/. 2 c.61C>T - r.(spl?) p.(Arg21*) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - Johan den Dunnen
+/. 2 c.61C>T - r.(spl?) p.(Arg21*) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - Johan den Dunnen
+/. 2 c.61C>T - r.(spl?) p.(Arg21*) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - Johan den Dunnen
+/. 2 c.61C>T - r.(spl?) p.(Arg21*) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - Johan den Dunnen
-/. 2 c.62G>A - r.(?) p.(Arg21Gln ) g.131897807G>A g.131576667G>A - - ARG1_000001 - PubMed: Mitchell 2009 - - Germline - 1/94 - 0 - Johan den Dunnen
+/. 2 c.78delA - r.(?) p.fsX g.131897823delA g.131576683delA - - ARG1_000005 - PubMed: Haraguchi 1990, OMIM:var0002 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.266_269del - r.(?) p.fsX g.131900386_131900389del g.131579246_131579249del - - ARG1_000004 - PubMed: Haraguchi 1990, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
-/. 3 c.270C>T - r.(?) p.(=) g.131900390C>T g.131579250C>T Asn90Asn - ARG1_000002 - - - rs34504481 Germline - 5/94 - 0 - Johan den Dunnen
-/. 3 c.270C>T - r.(?) p.(=) g.131900390C>T g.131579250C>T Asn90Asn - ARG1_000002 - PubMed: Mitchell 2009 - - Germline - 5/94 - 0 - Johan den Dunnen
-/. - c.270C>T benign r.(?) p.(=) g.131900390C>T - ARG1(NM_001244438.1):c.294C>T (p.N98=), MED23(NM_015979.3):c.4096-4955G>A - ARG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.270C>T benign r.(?) p.(=) g.131900390C>T - ARG1(NM_001244438.1):c.294C>T (p.N98=), MED23(NM_015979.3):c.4096-4955G>A - ARG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 4 c.365G>A - r.(?) p.(Trp122*) g.131902418G>A g.131581278G>A - - ARG1_000008 - PubMed: Uchino 1992, OMIM:var0005 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.413G>T - r.(?) p.(Gly138Val) g.131902466G>T g.131581326G>T - - ARG1_000012 - PubMed: Uchino 1995, OMIM:var0009 - - Germline - - - 0 - Johan den Dunnen
-/. 5i c.466-31A>C - r.(?) p.(=) g.131903730A>C g.131582590A>C - - ARG1_000003 - PubMed: Mitchell 2009 - - Germline - 1/94 - 0 - Johan den Dunnen
+/. 4i c.466-2A>G - r.spl? p.? g.131903759A>G g.131582619A>G IVS4-2A>G - ARG1_000014 sporadic, consanguineous parents PubMed: Uchino 1995, OMIM:var0011 - - Germline - - - 0 - Johan den Dunnen
+/. 4i c.466-2A>G - r.spl? p.? g.131903759A>G g.131582619A>G IVS4-2A>G - ARG1_000014 sporadic, consanguineous parents PubMed: Uchino 1995, OMIM:var0011 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.703G>C - r.(?) p.(Gly235Arg) g.131904532G>C g.131583392G>C - - ARG1_000009 - PubMed: Uchino 1992, OMIM:var0006 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.703G>C - r.(?) p.(Gly235Arg) g.131904532G>C g.131583392G>C - - ARG1_000009 - PubMed: Uchino 1992, OMIM:var0006 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.703G>C - r.(?) p.(Gly235Arg) g.131904532G>C g.131583392G>C - - ARG1_000009 - PubMed: Uchino 1992, OMIM:var0006 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.703G>C - r.(?) p.(Gly235Arg) g.131904532G>C g.131583392G>C - - ARG1_000009 - PubMed: Uchino 1995 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.703G>C - r.(?) p.(Gly235Arg) g.131904532G>C g.131583392G>C - - ARG1_000009 E.coli expression cloning yields less then 1% protein activity PubMed: Uchino 1995 - - Germline - - - 0 - Johan den Dunnen
?/. - c.798A>C VUS r.(?) p.(Lys266Asn) g.131904627A>C - ARG1(NM_001244438.1):c.822A>C (p.K274N), MED23(NM_015979.3):c.4095+4222T>G - ARG1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 8 c.843delC - r.(?) p.fs* g.131904922delC g.131583782delC 842delC - ARG1_000010 - PubMed: Uchino 1992, OMIM:var0007 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.843delC - r.(?) p.fs* g.131904922delC g.131583782delC 842delC - ARG1_000010 - PubMed: Uchino 1992, OMIM:var0007 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.869C>G - r.(?) p.(Thr290Ser) g.131904948C>G g.131583808C>G - - ARG1_000007 - PubMed: Grody 1992, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.869C>G - r.(?) p.(Thr290Ser) g.131904948C>G g.131583808C>G - - ARG1_000007 - PubMed: Grody 1992, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.871C>G - r.(?) p.(Arg291*) g.131904950C>G g.131583810C>G - - ARG1_000006 - PubMed: Grody 1992, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.871C>G - r.(?) p.(Arg291*) g.131904950C>G g.131583810C>G - - ARG1_000006 - PubMed: Grody 1992, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.871C>G - r.(?) p.(Arg291*) g.131904950C>G g.131583810C>G - - ARG1_000006 E.coli expression cloning yields less then 1% protein activity PubMed: Uchino 1995 - - Germline - - - 0 - Johan den Dunnen
?/. - c.*3030C>T VUS r.(=) p.(=) g.131908078C>T - MED23(NM_001270522.1):c.4078-1G>A (p.?, p.(=)) - MED23_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*9184A>G benign r.(=) p.(=) g.131914232A>G - MED23(NM_004830.3):c.3312T>C (p.A1104=) - MED23_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*10223T>C VUS r.(=) p.(=) g.131915271T>C - MED23(NM_004830,3):c.3200A>G (p.Tyr1067Cys) - MED23_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*10433A>G likely benign r.(=) p.(=) g.131915481A>G - MED23(NM_001270521.1):c.2996-6T>C (p.(=)) - ARG1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*10434A>C VUS r.(=) p.(=) g.131915482A>C - MED23(NM_001270521.1):c.2996-7T>G (p.(=)) - MED23_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*12693G>A VUS r.(=) p.(=) g.131917741G>A - MED23(NM_004830.3):c.2695C>T (p.R899*) - MED23_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*14483A>G VUS r.(=) p.(=) g.131919531A>G - MED23(NM_004830.3):c.2503T>C (p.S835P) - ARG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*16126T>C VUS r.(=) p.(=) g.131921174T>C - MED23(NM_001270521.1):c.2220+4A>G (p.?) - MED23_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*18352G>A VUS r.(=) p.(=) g.131923400G>A - MED23(NM_001270521.1):c.2053C>T (p.(Arg685Ter), p.(Arg691Ter)) - MED23_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*18463T>C likely benign r.(=) p.(=) g.131923511T>C - MED23(NM_001270521.1):c.1942A>G (p.(Thr648Ala), p.(Thr654Ala)) - ARG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.*19221C>T pathogenic r.(=) p.(=) g.131924269C>T - MED23(NM_004830.3):c.1832G>A (p.R611Q) - MED23_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*20283G>C VUS r.(=) p.(=) g.131925331G>C - MED23(NM_004830.3):c.1743C>G (p.I581M) - ARG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*20329G>A likely benign r.(=) p.(=) g.131925377G>A - MED23(NM_001270521.1):c.1697C>T (p.(Thr566Ile), p.(Thr572Ile)) - ARG1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*24163A>G likely benign r.(=) p.(=) g.131929211A>G - MED23(NM_001270521.1):c.1078T>C (p.(=)) - ARG1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*26260C>A VUS r.(=) p.(=) g.131931308C>A - MED23(NM_004830.3):c.955G>T (p.E319*) - ARG1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*39456C>A VUS r.(=) p.(=) g.131944504C>A - MED23(NM_004830.3):c.383G>T (p.Gly128Val) - MED23_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*41006G>A VUS r.(=) p.(=) g.131946054G>A - MED23(NM_004830.3):c.235C>T (p.L79F) - MED23_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*43765C>T likely benign r.(=) p.(=) g.131948813C>T - MED23(NM_001270521.1):c.40-1G>A (p.?) - ARG1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*43780_*43782del VUS r.(=) p.(=) g.131948828_131948830del - MED23(NM_001270521.1):c.40-7_40-5del (p.?) - ARG1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*43780_*43782dup likely benign r.(=) p.(=) g.131948828_131948830dup - MED23(NM_001270521.1):c.40-5_40-4insTTT (p.?) - ARG1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*43781_*43782dup likely benign r.(=) p.(=) g.131948829_131948830dup - MED23(NM_001270521.1):c.40-5_40-4insTT (p.?) - ARG1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*43782dup likely benign r.(?) p.(=) g.131948830dup - MED23(NM_001270521.1):c.40-5dup (p.?, p.(=)), MED23(NM_004830.3):c.40-5dupT - ARG1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*43782dup benign r.(?) p.(=) g.131948830dup - MED23(NM_001270521.1):c.40-5dup (p.?, p.(=)), MED23(NM_004830.3):c.40-5dupT - ARG1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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