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.404C>T r.(?) p.(Thr135Ile) Both (homozygous) - pathogenic (recessive) g.131902457C>T - T134I - ARG1_000090 - PubMed: Carvalho 2012 - - Germline - - - 0 - DNA SEQ - - argininemia Pat1 PubMed: Carvalho 2012 family, affected monozygotic twin brothers M - Brazil - - 0 - - 2 Johan den Dunnen
+/. - c.404C>T r.(?) p.(Thr135Ile) Both (homozygous) - pathogenic (recessive) g.131902457C>T - T134I - ARG1_000090 - PubMed: Carvalho 2012 - - Germline - - - 0 - DNA SEQ - - argininemia Pat2 PubMed: Carvalho 2012 twin M - Brazil - - 0 - - 1 Johan den Dunnen
+/. - c.404C>T r.(?) p.(Thr135Ile) Both (homozygous) - pathogenic (recessive) g.131902457C>T - T134I - ARG1_000090 - PubMed: Carvalho 2012 - - Germline - - - 0 - DNA SEQ - - argininemia Pat3 PubMed: Carvalho 2012 family, 2 affected sibs M yes Brazil - - 0 - - 2 Johan den Dunnen
+/. - c.404C>T r.(?) p.(Thr135Ile) Both (homozygous) - pathogenic (recessive) g.131902457C>T - T134I - ARG1_000090 - PubMed: Carvalho 2012 - - Germline - - - 0 - DNA SEQ - - argininemia Pat4 PubMed: Carvalho 2012 sib M - Brazil - - 0 - - 1 Johan den Dunnen
+/. - c.404C>T r.(?) p.(Thr135Ile) Both (homozygous) - pathogenic (recessive) g.131902457C>T - T134I - ARG1_000090 - PubMed: Carvalho 2012 - - Germline - - - 0 - DNA SEQ - - argininemia Pat5 PubMed: Carvalho 2012 - F - Brazil - - 0 - - 1 Johan den Dunnen
+/. - c.404C>T r.(?) p.(Thr135Ile) Both (homozygous) - pathogenic (recessive) g.131902457C>T - T134I - ARG1_000090 - PubMed: Carvalho 2012 - - Germline - - - 0 - DNA SEQ - - argininemia Pat6 PubMed: Carvalho 2012 - F - Brazil - - 0 - - 1 Johan den Dunnen
+/. - c.404C>T r.(?) p.(Thr135Ile) Both (homozygous) - pathogenic (recessive) g.131902457C>T - T134I - ARG1_000090 - PubMed: Carvalho 2012 - - Germline - - - 0 - DNA SEQ - - argininemia Pat7 PubMed: Carvalho 2012 - M - Brazil - - 0 - - 1 Johan den Dunnen
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