All transcript variants in gene SEMA3A

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

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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     
+/? 6i_17_ c.(667+1_668-1)_(*3028_?)del - r.? p.? g.(83463000_83587659)_(83643668_83675639)_del - - - SEMA3A_000000 213 kb deletion, not in 1040 control chromosomes; no variants on other allele; Hanchate (2012) question the autosomal dominant mendelian inheritance and suggested a variant in another gene combined with SEMA3A haploinsufficiency associates with the disease phenotype PubMed: Young 2012, Journal: Young 2012, OMIM:var0001, PubMed: Hanchate 2012 - - Germline yes - - 0 - Johan den Dunnen
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