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     
+/. _1_1i c.-79_(57+1_58-1){0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(?_131894344)_(131894480_131897802)del - del ex1 - ARG1_000070 - PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - DNA SEQ - - argininemia Pat2-20a PubMed: Diez-Fernandez 2018 - - - India - - 0 - - 1 Johan den Dunnen
+/. _1_1i c.-79_(57+1_58-1){0} r.0? p.0? Parent #1 - pathogenic (recessive) g.(?_131894344)_(131894480_131897802)del - - - ARG1_000070 no variant 2nd chromosome PubMed: Diez-Fernandez 2018 - - Germline - - - 0 - DNA SEQ - - argininemia Pat2-18b PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - 1 Johan den Dunnen
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