Individual #00211280

ID_report 19261599-MPS012
Reference PubMed: Vogt 2009
Remarks fetus3 family, 3 affecteds, parents and 2 healthy children heterozygous carriers
Gender -
Consanguinity -
Country India
Population Bengal
Age/Death <0d
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     
0000159762 24w gestation no movement fetal akinesia deformation sequence FADS Isolated (sporadic) - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000212356 DNA SEQ - - DOK7 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     
4 Parent #1 +/. g.3475364G>T - - - DOK7_000018 not in 378 control chromosomes PubMed: Vogt 2009 - - Germline - - - 0 - Johan den Dunnen DOK7 - - - - - 3i NM_173660.4:c.331+1G>T - pathogenic r.spl p.? - - - - - - - - - - - - - - - - - - -
4 Parent #2 +/. g.3475364G>T - - - DOK7_000018 not in 378 control chromosomes PubMed: Vogt 2009 - - Germline - - - 0 - Johan den Dunnen DOK7 - - - - - 3i NM_173660.4:c.331+1G>T - pathogenic r.spl p.? - - - - - - - - - - - - - - - - - - -
Legend