All transcript variants in gene ARG1

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

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.266_269del - r.(?) p.fsX g.131900386_131900389del g.131579246_131579249del - - ARG1_000004 - PubMed: Haraguchi 1990, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
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