All transcript variants in gene SEMA3A

Information The variants shown are described using the NM_006080.2 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     
+/. 17 c.2198G>A - r.(?) p.(Arg733His) g.83590805C>T g.83961489C>T - - SEMA3A_000012 not in 1544 control chromosomes PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - 1/386 cases - 0 - Johan den Dunnen
+/. 17 c.2198G>A - - p.Arg733His g.83590805C>T g.83961489C>T - - SEMA3A_000012 cDNA expression cloning in GN11 cells (embryonic) showed reduced SEMA3A signaling activity and in COS7 cells normal SEMA3A secretion PubMed: Hanchate 2012, Journal: Hanchate 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
?/. - c.2198G>A VUS r.(?) p.(Arg733His) g.83590805C>T - SEMA3A(NM_006080,2):c.2198G>A (p.(Arg733His)) - SEMA3A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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