Individual #00081725

ID_report -
Reference PubMed: Hofmann 2013, Journal: Hofmann 2013
Remarks 2-generation family, 1 affected, unaffected non-carrier mother/carrier father
Gender M
Consanguinity no
Country Germany
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases stature, short
Owner name Johan den Dunnen


Phenotypes

stature, short (stature, short)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000061367 see paper; ..., postnatal short stature, skeletal anomalies thorax, minor congenital heart defect, camptodactyly, minor further anomalies - - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081854 DNA;RNA arraySNP;MLPA;RT-PCR;SEQ - - SEMA3A 4 Johan den Dunnen



Variants

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     

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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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