All transcript variants in gene SEMA3A

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 14 c.1613_1626del - r.(?) p.(Asp538Valfs*31) g.83610663_83610676del g.83981347_83981360del del1613_1626 (D538fsX31) - SEMA3A_000013 not in 1544 control chromosomes PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0003 - rs147436181 Germline - 1/386 cases - 0 - Johan den Dunnen
+/. 14 c.1613_1626del - - p.(Asp538Valfs*31) g.83610663_83610676del g.83981347_83981360del del1613_1626 (D538fsX31) - SEMA3A_000013 cDNA expression cloning in COS7 cells showed impaired SEMA3A secretion and in GN11 cells (embryonic) reduced SEMA3A signaling activity PubMed: Hanchate 2012, Journal: Hanchate 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
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