Unique variants in gene ARG1

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

15 entries on 1 page. Showing entries 1 - 15.
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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     
+?/. 3 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 - rs28941474 Germline - - - - - Johan den Dunnen
+/. 3 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 - - - - - Johan den Dunnen
+/. 8 2 c.61C>T - r.(spl?) p.(Arg21*) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ - - Johan den Dunnen
-/. 1 2 c.62G>A - r.(?) p.(Arg21Gln ) g.131897807G>A g.131576667G>A - - ARG1_000001 - PubMed: Mitchell 2009 - - Germline - 1/94 - - - Johan den Dunnen
+/. 1 2 c.78delA - r.(?) p.fsX g.131897823delA g.131576683delA - - ARG1_000005 - PubMed: Haraguchi 1990, OMIM:var0002 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.266_269del - r.(?) p.fsX g.131900386_131900389del g.131579246_131579249del - - ARG1_000004 - PubMed: Haraguchi 1990, OMIM:var0001 - - Germline - - - - - Johan den Dunnen
-/. 6 3 c.270C>T benign r.(=), r.(?) p.(=) g.131900390C>T g.131579250C>T MED23:c.4096-4955G>A, Asn90Asn, ARG1:c.294C>T (=) - ARG1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Mitchell 2009 - rs34504481 CLASSIFICATION record, Germline - 5/94 - - - VKGL-NL_AMC, VKGL-NL_Groningen, Johan den Dunnen
+/. 1 4 c.365G>A - r.(?) p.(Trp122*) g.131902418G>A g.131581278G>A - - ARG1_000008 - PubMed: Uchino 1992, OMIM:var0005 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.413G>T - r.(?) p.(Gly138Val) g.131902466G>T g.131581326G>T - - ARG1_000012 - PubMed: Uchino 1995, OMIM:var0009 - - Germline - - - - - Johan den Dunnen
-/. 1 5i c.466-31A>C - r.(?) p.(=) g.131903730A>C g.131582590A>C - - ARG1_000003 - PubMed: Mitchell 2009 - - Germline - 1/94 - - - Johan den Dunnen
+/. 2 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 - - - - - Johan den Dunnen
+/. 5 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 1992, OMIM:var0006, PubMed: Uchino 1995 - - Germline - - - - - Johan den Dunnen
+/. 2 8 c.843delC - r.(?) p.fs* g.131904922delC g.131583782delC 842delC - ARG1_000010 - PubMed: Uchino 1992, OMIM:var0007 - - Germline - - - - - Johan den Dunnen
+/. 2 8 c.869C>G - r.(?) p.(Thr290Ser) g.131904948C>G g.131583808C>G - - ARG1_000007 - PubMed: Grody 1992, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
+/. 3 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: Grody 1992, OMIM:var0003, PubMed: Uchino 1995 - - Germline - - - - - Johan den Dunnen
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