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     
+?/. 1 c.32T>C r.(?) p.(ile11Thr) Parent #1 - likely pathogenic g.131894454T>C g.131573314T>C - - ARG1_000011 - PubMed: Uchino 1995, OMIM:var0008 - - Germline - - - 0 - DNA SEQ - - argininemia - PubMed: Uchino 1995 3 related patients - - Puerto Rico - - 0 - - 3 Johan den Dunnen
+?/. 1 c.32T>C r.(?) p.(ile11Thr) Unknown - NA g.131894454T>C g.131573314T>C - - ARG1_000011 E.coli expression cloning yields 0.12 protein activity PubMed: Uchino 1995, OMIM:var0008 - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.32T>C r.(?) p.(ile11Thr) Unknown - likely pathogenic g.131894454T>C g.131573314T>C - - ARG1_000011 - - - rs28941474 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.32T>C r.(?) p.(Ile11Thr) Parent #1 - pathogenic (recessive) g.131894454T>C - - - ARG1_000011 - PubMed: Lee 2011 - - Germline - - - 0 - DNA SEQ - - argininemia patient PubMed: Lee 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea - - 0 - - 1 Johan den Dunnen
+/. - c.32T>C r.(?) p.(Ile11Thr) Parent #1 - pathogenic (recessive) g.131894454T>C - - - ARG1_000011 - PubMed: Carvalho 2012 - - Germline - - - 0 - DNA SEQ - - argininemia Pat11 PubMed: Carvalho 2012 - - - Brazil - - 0 - - 1 Johan den Dunnen
+/. - c.32T>C r.(?) p.(Ile11Thr) Parent #1 - pathogenic (recessive) g.131894454T>C - - - ARG1_000011 - PubMed: Wu 2015 - - Germline - - - 0 - DNA SEQ - - argininemia patient PubMed: Wu 2015 - - - China - - 0 - - 1 Johan den Dunnen
+/. - c.32T>C r.(?) p.(Ile11Thr) Both (homozygous) - pathogenic (recessive) g.131894454T>C - - - ARG1_000011 - PubMed: Cai 2018 - - Germline - - - 0 - DNA SEQ - - argininemia patient PubMed: Cai 2018 - M - China - - 0 - - 1 Johan den Dunnen
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