Individual #00217144

ID_report -
Reference PubMed: Yonath 2012
Remarks Pat4 Yonath 2012
Gender -
Consanguinity -
Country -
Population Jewish, Ashkenazi
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases FADS
Owner name Johan den Dunnen


Phenotypes

akinesia, fetal, deformation sequence (FADS) (FADS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000165595 - fetal akinesia - Isolated (sporadic) - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000218213 DNA PCR - - NEB 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
2 Paternal (confirmed) +/. g.152487335T>C - IVS67-2A>G - NEB_000098 - PubMed: Yonath 2012 - - Unknown - - - 0 - Johan den Dunnen NEB - - - - - 66i NM_001271208.1:c.9619-2A>G - pathogenic r.spl p.? - - - - - - - - - - - - - - - - - - -
2 Maternal (confirmed) +/. g.152502272_152504774del - del ex55 - NEB_000007 - PubMed: Yonath 2012 - - Unknown - - - 0 - Johan den Dunnen NEB - - - - - 54i_55i NM_001271208.1:c.7431+1916_7536+372del - pathogenic r.del p.(Arg2478_Asp2512del) - - - - - - - - - - - - - - - - - - -
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