Full data view for 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.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 6i c.668-14T>A - r.= p.= Paternal (confirmed) g.83643681A>T g.84014365A>T - - SEMA3A_000004 - PubMed: Hofmann 2013, Journal: Hofmann 2013 - - Germline - - - 0 - DNA, RNA arraySNP, MLPA, RT-PCR, SEQ - - stature, short - PubMed: Hofmann 2013, Journal: Hofmann 2013 2-generation family, 1 affected, unaffected non-carrier mother/carrier father M no Germany - - 0 - - 1 Johan den Dunnen
-/. - c.668-14T>A benign r.(=) p.(=) Unknown g.83643681A>T - SEMA3A(NM_006080.2):c.668-14T>A (p.?) - SEMA3A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.668-14T>A benign r.(=) p.(=) Unknown g.83643681A>T - SEMA3A(NM_006080.2):c.668-14T>A (p.?) - SEMA3A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend