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.
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     
+/. 3 c.263_266del r.(?) p.(Lys88Argfs*45) - pathogenic (recessive) g.131900383_131900386del - - - ARG1_000050 - PubMed: Haraguchi 1990, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.263_266del r.(?) p.(Lys88Argfs*45) - pathogenic (recessive) g.131900383_131900386del g.131579243_131579246del - - ARG1_000050 - PubMed: Segawa 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.263_266del r.(?) p.(Lys88Argfs*45) - pathogenic (recessive) g.131900383_131900386del - 263-266delAGAA - ARG1_000050 - PubMed: Cui 2020, PubMed: Cui 2021 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query