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.798A>C r.(?) p.(Lys266Asn) - VUS g.131904627A>C g.131583487A>C ARG1(NM_001244438.2):c.822A>C (p.K274N), MED23(NM_015979.3):c.4095+4222T>G - ARG1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.798A>C r.(?) p.(Lys266Asn) - pathogenic (recessive) g.131904627A>C - - - ARG1_000016 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - Johan den Dunnen
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