Full data view for gene ARG1

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.58-3C>G r.spl? p.? Both (homozygous) - pathogenic (recessive) g.131897800C>G - IVS1-3C>G - ARG1_000056 - PubMed: Dorum 2021 - - Germline - - - 0 - DNA SEQ - - argininemia Pat6 PubMed: Dorum 2021 - M - Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.58-3C>G r.spl? p.? Both (homozygous) - pathogenic (recessive) g.131897800C>G - - - ARG1_000056 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - DNA SEQ - - argininemia Pat2-9a/b/c PubMed: Diez-Fernandez 2018 family, 3 affected sibs - - Turkey - - 0 - - 3 Johan den Dunnen
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