All transcript variants in gene SEMA3A

Information The variants shown are described using the NM_006080.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend  

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     
+/. 2 c.196C>T - r.(?) p.(Arg66Trp) g.83764184G>A g.84134868G>A 197C>T - SEMA3A_000007 - PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - 1/386 cases - 0 - Johan den Dunnen
+/. 2 c.196C>T - r.(?) p.(Arg66Trp) g.83764184G>A g.84134868G>A 19&C>T - SEMA3A_000007 - PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - 1/1542 control chromosomes - 0 - Johan den Dunnen
+/. 2 c.196C>T - - p.Arg66Trp g.83764184G>A g.84134868G>A 197C>T - SEMA3A_000007 cDNA expression cloning in COS7 cells showed impaired SEMA3A secretion and in GN11 cells (embryonic) reducd SEMA3A signaling activity PubMed: Hanchate 2012, Journal: Hanchate 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
?/. 2 c.196C>T - r.(?) p.(Arg66Trp) g.83764184G>A g.84134868G>A g.65034C>T - SEMA3A_000007 - PubMed: Neubauer 2018, Journal: Neubauer 2018 - rs199979628 Unknown - - - 0 - Cordula Haas
Legend