All variants in the ARG1 gene

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

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
+/. 2 c.61C>T r.(spl?) p.(Arg21*) - pathogenic (recessive) 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*) - pathogenic (recessive) 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*) - pathogenic (recessive) 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*) - pathogenic (recessive) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Jain-Ghai 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Jain-Ghai 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - Rodrigues 2014, PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - Rodrigues 2014, PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - Rodrigues 2014, PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
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