All variants in the ARG1 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.223A>T - p.Lys75* - NA g.131900343A>T - K75X - ARG1_000039 cDNA expression cloning E.coli arginase activity <0.01 PubMed: Vockley 1996 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.223A>T r.(?) p.(Lys75*) - pathogenic (recessive) g.131900343A>T - - - ARG1_000039 - PubMed: Edwards 2009 - - Germline - - - 0 - Johan den Dunnen
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