All variants in the ARG1 gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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.923G>A r.(?) p.(Arg308Gln) - pathogenic (recessive) g.131905002G>A - g131905002_131905002G>A - ARG1_000054 - PubMed: Bakirtzis 2021 - - Germline - - - 0 - Johan den Dunnen
+/. - c.923G>A r.(?) p.(Arg308Gln) - pathogenic (recessive) g.131905002G>A - - - ARG1_000054 - PubMed: Dorum 2021 - - Germline - - - 0 - Johan den Dunnen
+/. - c.923G>A r.(?) p.(Arg308Gln) - pathogenic (recessive) g.131905002G>A - - - ARG1_000054 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.923G>A r.(?) p.(Arg308Gln) - pathogenic (recessive) g.131905002G>A - - - ARG1_000054 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.923G>A r.(?) p.(Arg308Gln) - pathogenic (recessive) g.131905002G>A - - - ARG1_000054 - PubMed: Carvalho 2012 - - Germline - - - 0 - Johan den Dunnen
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