Full data view for gene ARG1

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

7 entries on 1 page. Showing entries 1 - 7.
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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.383A>G r.(?) p.(Asp128Gly) Both (homozygous) - pathogenic (recessive) g.131902436A>G - 382A>G - ARG1_000033 - PubMed: Vockley 1994 - - Germline - - - 0 - DNA SEQ, SSCA - - argininemia PatMO PubMed: Vockley 1994 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.383A>G r.(?) p.(Asp128Gly) Both (homozygous) - pathogenic (recessive) g.131902436A>G - 382A>G - ARG1_000033 - PubMed: Vockley 1994 - - Germline - - - 0 - DNA SEQ, SSCA - - argininemia PatBR PubMed: Vockley 1994 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.383A>G - p.Asp128Gly Unknown - NA g.131902436A>G g.131581296A>G D128G - ARG1_000033 cDNA expression cloning E.coli no arginase activity (0.01), no in vivo RBC arginase activity (<0.02) PubMed: Vockley 1996 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.383A>G r.(?) p.(Asp128Gly) Both (homozygous) - pathogenic (recessive) g.131902436A>G - - - ARG1_000033 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - DNA SEQ - - argininemia Pat15d PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.383A>G r.(?) p.(Asp128Gly) Both (homozygous) - pathogenic (recessive) g.131902436A>G - - - ARG1_000033 - PubMed: Huemer 2016 - - Germline - - - 0 - DNA SEQ - - argininemia Pat4 PubMed: Huemer 2016 - - - Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.383A>G r.(?) p.(Asp128Gly) Both (homozygous) - pathogenic (recessive) g.131902436A>G - - - ARG1_000033 - PubMed: Huemer 2016 - - Germline - - - 0 - DNA SEQ - - argininemia Pat3 PubMed: Huemer 2016 - - - Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.383A>G r.(?) p.(Asp128Gly) Both (homozygous) - pathogenic (recessive) g.131902436A>G - - - ARG1_000033 - PubMed: Huemer 2016 - - Germline - - - 0 - DNA SEQ - - argininemia Pat2 PubMed: Huemer 2016 - - - - - - 0 - - 1 Johan den Dunnen
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