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.23T>A r.(?) p.(Ile8Lys) - pathogenic (recessive) g.131894445T>A - - - ARG1_000059 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.23T>A r.(?) p.(Ile8Lys) - pathogenic (recessive) g.131894445T>A - - - ARG1_000059 - PubMed: Amayreh 2014 - - Germline - - - 0 - Johan den Dunnen
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