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.
Legend   How to query  

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.422A>T r.(?) p.(His141Leu) - pathogenic (recessive) g.131902475A>T - 421A>T - ARG1_000034 - PubMed: Vockley 1994 - - Germline - - - 0 - Johan den Dunnen
+/. - c.422A>T - p.His141Leu - NA g.131902475A>T g.131581335A>T H141L - ARG1_000034 no in vivo RBC arginase activity (<0.05) PubMed: Vockley 1996 - - In vitro (cloned) - - - 0 - Johan den Dunnen
Legend   How to query