Full data view for gene ARG1

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2 c.61C>T r.(spl?) p.(Arg21*) Both (homozygous) - pathogenic (recessive) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - DNA SEQ - - argininemia - PubMed: Cardoso 1999 unrelated patients - - Portugal - - 0 - - 1 Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) Both (homozygous) - pathogenic (recessive) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - DNA SEQ - - argininemia - PubMed: Cardoso 1999 unrelated patients - - Portugal - - 0 - - 1 Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) Both (homozygous) - pathogenic (recessive) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - DNA SEQ - - argininemia - PubMed: Cardoso 1999 unrelated patients - - Portugal - - 0 - - 1 Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) Both (homozygous) - pathogenic (recessive) g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - DNA SEQ - - argininemia - PubMed: Cardoso 1999 unrelated patients - - Portugal - - 0 - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) Both (homozygous) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Jain-Ghai 2011 - - Germline - - - 0 - DNA SEQ - - argininemia Pat8 PubMed: Jain-Ghai 2011 2-generation family, 1 affected, unaffected heterozygous carrier first cousin parents M yes Iraq - - 0 - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) Parent #1 - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Jain-Ghai 2011 - - Germline - - - 0 - DNA SEQ - - argininemia Pat5 PubMed: Jain-Ghai 2011 - F - Canada - - 0 - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) Both (homozygous) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - DNA SEQ - - argininemia Pat2-2e PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) Both (homozygous) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - DNA SEQ - - argininemia Pat2-2f PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) Both (homozygous) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - DNA SEQ - - argininemia Pat2-34a PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) Parent #2 - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - DNA SEQ - - argininemia Pat11 PubMed: Carvalho 2012 - - - Brazil - - 0 - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) Parent #1 - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - DNA SEQ - - argininemia Pat8 PubMed: Carvalho 2012 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) Parent #1 - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - DNA SEQ - - argininemia Pat9 PubMed: Carvalho 2012 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) Both (homozygous) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - DNA SEQ - - argininemia Pat12 PubMed: Carvalho 2012 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) Both (homozygous) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - PubMed: Carvalho 2012 - - Germline - - - 0 - DNA SEQ - - argininemia Pat13 PubMed: Carvalho 2012 - F - Brazil - - 0 - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) Both (homozygous) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - Rodrigues 2014, PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - DNA SEQ - - argininemia patient Rodrigues 2014, PubMed: Diez-Fernandez 2018 - - - Portugal - - 0 - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) Both (homozygous) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - Rodrigues 2014, PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - DNA SEQ - - argininemia patient Rodrigues 2014, PubMed: Diez-Fernandez 2018 - - - Portugal - - 0 - - 1 Johan den Dunnen
+/. - c.61C>T r.(?) p.(Arg21*) Both (homozygous) - pathogenic (recessive) g.131897806C>T - - - ARG1_000015 - Rodrigues 2014, PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - DNA SEQ - - argininemia patient Rodrigues 2014, PubMed: Diez-Fernandez 2018 - - - Portugal - - 0 - - 1 Johan den Dunnen
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