All transcript variants in gene ARG1

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
+?/. 1 c.32T>C - r.(?) p.(ile11Thr) g.131894454T>C g.131573314T>C - - ARG1_000011 - PubMed: Uchino 1995, OMIM:var0008 - - Germline - - - 0 - Johan den Dunnen
+?/. 1 c.32T>C - r.(?) p.(ile11Thr) g.131894454T>C g.131573314T>C - - ARG1_000011 E.coli expression cloning yields 12% protein activity PubMed: Uchino 1995, OMIM:var0008 - - Germline - - - 0 - Johan den Dunnen
+?/. 1 c.32T>C - r.(?) p.(ile11Thr) g.131894454T>C g.131573314T>C - - ARG1_000011 - - - rs28941474 Germline - - - 0 - Johan den Dunnen
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