Screening #0000081854

Individual ID 00081725
Template DNA;RNA
Technique arraySNP;MLPA;RT-PCR;SEQ
Tissue -
Remarks -
Variants found? 4
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 7 p12.1 1 55 29 2019-02-20 HH-16



Variants found

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

Allele     

Effect     

AscendingDNA 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     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
7 Maternal (confirmed) +/. g.83640384_83640388delinsCATTAGAAGATGTA g.84011068_84011072delinsCATTAGAAGATGTA - - SEMA3A_000002 inheritance maternal allele proven by cloning/linked variants PubMed: Hofmann 2013, Journal: Hofmann 2013 - - De novo yes - - 0 - Johan den Dunnen SEMA3A - - - - - 9 NM_006080.2:c.945_949delinsTACATCTTCTAATG - - r.[925_926ins925+1_926-1,945_949delinsuacaucuucuaaug] p.[Gln309fs,Phe316_Lys317delinsThrSerSerAsnGlu] - - - - - - - - - - - - - - - - - - -
7 Paternal (confirmed) -/. g.83643681A>T g.84014365A>T - - SEMA3A_000004 - PubMed: Hofmann 2013, Journal: Hofmann 2013 - - Germline - - - 0 - Johan den Dunnen SEMA3A - - - - - 6i NM_006080.2:c.668-14T>A - - r.= p.= - - - - - - - - - - - - - - - - - - -
7 Paternal (confirmed) -/. g.83643687G>A g.84014371G>A - - SEMA3A_000003 - PubMed: Hofmann 2013, Journal: Hofmann 2013 - - Germline - - - 0 - Johan den Dunnen SEMA3A - - - - - 6i NM_006080.2:c.668-20C>T - - r.= p.= - - - - - - - - - - - - - - - - - - -
7 Paternal (confirmed) +/. g.(83820298_83821402)_(83971334_83977081)del - g. (83658234_83659338)_(83809270_ 83815017)del NCBI36.1 - SEMA3A_000005 - PubMed: Hofmann 2013, Journal: Hofmann 2013 - - Germline yes - - 0 - Johan den Dunnen SEMA3A - - - - - _1_1i NM_006080.2:c.(-153179_-147432)_(112+2389__112+3493)del - - r.0? p.0? - - - - - - - - - - - - - - - - - - -
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