All transcript variants in gene SEMA3A

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

7 entries on 1 page. Showing entries 1 - 7.
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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     
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 13/386 cases - 0 - Johan den Dunnen
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 1/386 cases - 0 - Johan den Dunnen
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 1/386 cases - 0 - Johan den Dunnen
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 1/386 cases - 0 - Johan den Dunnen
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 13/1542 control chromosomes - 0 - Johan den Dunnen
+/. 11 c.1303G>A - - p.Val435Ile g.83634712C>T g.84005396C>T - - SEMA3A_000006 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
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) g.83634712C>T g.84005396C>T - - SEMA3A_000006 - - - rs147436181 Germline ? - - 0 - Anna Alkelai
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