Full data view for gene ARG1

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 4 c.365G>A r.(?) p.(Trp122*) Paternal (confirmed) - pathogenic g.131902418G>A g.131581278G>A - - ARG1_000008 - PubMed: Uchino 1992, OMIM:var0005 - - Germline - - - 0 - DNA SEQ - - argininemia - PubMed: Uchino 1992 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.365G>A r.(?) p.(Trp122*) Both (homozygous) - pathogenic (recessive) g.131902418G>A - - - ARG1_000008 - PubMed: Vockley 1994 - - Germline yes - - 0 - DNA SEQ - - argininemia PatMU/RH PubMed: Vockley 1994 family, 2 affected sibs - - United States - - 0 - - 2 Johan den Dunnen
+/. - c.365G>A - p.Trp122* Unknown - NA g.131902418G>A g.131581278G>A W122X - ARG1_000008 no in vivo RBC arginase activity (<0.01) PubMed: Vockley 1996 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.365G>A r.(?) p.(Trp122*) Parent #2 - pathogenic (recessive) g.131902418G>A - - - ARG1_000008 - PubMed: Amayreh 2014 - - Germline - - - 0 - DNA SEQ - - argininemia patient PubMed: Amayreh 2014 - - - Germany Arab - 0 - - 1 Johan den Dunnen
+/. - c.365G>A r.(?) p.(Trp122*) Parent #2 - pathogenic (recessive) g.131902418G>A - - - ARG1_000008 - PubMed: Carvalho 2012 - - Germline - - - 0 - DNA SEQ - - argininemia Pat9 PubMed: Carvalho 2012 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. - c.365G>A r.(?) p.(Trp122*) Parent #1 - pathogenic (recessive) g.131902418G>A - - - ARG1_000008 - PubMed: Yokoi 2021 - - Germline - - - 0 - DNA SEQ - - argininemia patient PubMed: Yokoi 2021 - - - Japan - - 0 - - 1 Johan den Dunnen
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