All transcript variants in gene ARG1

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
-/. 3 c.270C>T - r.(?) p.(=) g.131900390C>T g.131579250C>T Asn90Asn - ARG1_000002 - - - rs34504481 Germline - 5/94 - 0 - Johan den Dunnen
-/. 3 c.270C>T - r.(?) p.(=) g.131900390C>T g.131579250C>T Asn90Asn - ARG1_000002 - PubMed: Mitchell 2009 - - Germline - 5/94 - 0 - Johan den Dunnen
-/. - c.270C>T benign r.(?) p.(=) g.131900390C>T - ARG1(NM_001244438.1):c.294C>T (p.N98=), MED23(NM_015979.3):c.4096-4955G>A - ARG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.270C>T benign r.(?) p.(=) g.131900390C>T - ARG1(NM_001244438.1):c.294C>T (p.N98=), MED23(NM_015979.3):c.4096-4955G>A - ARG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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