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.386_388del r.(?) p.(Ile129del) Both (homozygous) - pathogenic (recessive) g.131902439_131902441del - Ile129del - ARG1_000036 - PubMed: Vockley 1996 - - Germline - - - 0 - DNA SEQ, SSCA - - argininemia family PubMed: Vockley 1996 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no United States - - 0 - - 1 Johan den Dunnen
+/. - c.386_388del - p.Ile129del Unknown - NA g.131902439_131902441del g.131581299_131581301del dI129 - ARG1_000036 cDNA expression cloning E.coli arginase activity <0.01 PubMed: Vockley 1996 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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