All variants in the ARG1 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 8 c.869C>G r.(?) p.(Thr290Ser) - pathogenic (recessive) g.131904948C>G g.131583808C>G - - ARG1_000007 - PubMed: Grody 1992, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
?/. - c.869C>G r.(?) p.(Thr290Ser) - VUS g.131904948C>G - - - ARG1_000007 - PubMed: Klein 1991 - - Germline - - (TaqI-) 0 - Johan den Dunnen
+/. - c.869C>G - p.Thr290Ser - NA g.131904948C>G - R291X - ARG1_000007 cDNA expression cloning E.coli arginase activity <0.01, no in vivo RBC arginase activity (<0.01) PubMed: Vockley 1996 - - In vitro (cloned) - - - 0 - Johan den Dunnen
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