All variants in the ARG1 gene

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

14 entries on 1 page. Showing entries 1 - 14.
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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     
+/. - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A - - - ARG1_000037 - PubMed: Vockley 1996 - - Germline - - - 0 - Johan den Dunnen
+/. - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A - - - ARG1_000037 - PubMed: Dorum 2021 - - Germline - - - 0 - Johan den Dunnen
+/. - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A - - - ARG1_000037 - PubMed: Dorum 2021 - - Germline - - - 0 - Johan den Dunnen
+/. - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A - - - ARG1_000037 - PubMed: Dorum 2021 - - Germline - - - 0 - Johan den Dunnen
+/. - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A GACTGGACC 703_707delGGACTinsAGACTGGACC - ARG1_000037 - PubMed: Yucel 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A - - - ARG1_000037 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A - - - ARG1_000037 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A - - - ARG1_000037 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A - - - ARG1_000037 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A - - - ARG1_000037 - PubMed: Wu 2013 - - Germline - - - 0 - Johan den Dunnen
+/. - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A - - - ARG1_000037 - PubMed: Wu 2013 - - Germline - - - 0 - Johan den Dunnen
+/. - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A - - - ARG1_000037 - PubMed: Wu 2013 - - Germline - - - 0 - Johan den Dunnen
+/. - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A - - - ARG1_000037 - PubMed: Huemer 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A - G235R+c.712ins[GGACC]2 - ARG1_000037 - PubMed: Häberle and Koch 2004 - - Germline - - - 0 - Johan den Dunnen
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