All variants in the ARG1 gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 4 c.365G>A r.(?) p.(Trp122*) - pathogenic g.131902418G>A g.131581278G>A - - ARG1_000008 - PubMed: Uchino 1992, OMIM:var0005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.365G>A r.(?) p.(Trp122*) - pathogenic (recessive) g.131902418G>A - - - ARG1_000008 - PubMed: Vockley 1994 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.365G>A - p.Trp122* - NA g.131902418G>A g.131581278G>A W122X - ARG1_000008 no in vivo RBC arginase activity (<0.01) PubMed: Vockley 1996 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.365G>A r.(?) p.(Trp122*) - pathogenic (recessive) g.131902418G>A - - - ARG1_000008 - PubMed: Amayreh 2014 - - Germline - - - 0 - Johan den Dunnen
+/. - c.365G>A r.(?) p.(Trp122*) - pathogenic (recessive) g.131902418G>A - - - ARG1_000008 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.365G>A r.(?) p.(Trp122*) - pathogenic (recessive) g.131902418G>A - - - ARG1_000008 - PubMed: Yokoi 2021 - - Germline - - - 0 - Johan den Dunnen
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