All variants in the ARG1 gene

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

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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.434T>A r.(?) p.(Val145Glu) - pathogenic (recessive) g.131902487T>A g.131581347T>A NM_001244438 .1:c.458T>A - ARG1_000057 - PubMed: Elsayed 2020 - - Germline yes - - 0 - Johan den Dunnen
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