Individual #00029029

ID_report -
Reference PubMed: Milunsky 2008
Remarks 2-generation family, affected mother/son
Gender -
Consanguinity -
Country United States
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases BOFS
Owner name Johan den Dunnen


Phenotypes

branchiooculofacial syndrome (BOFS) (BOFS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000025051 see paper; ... ; neither mother/son had overt cleft lip and palate; son has abnormally short philtrum and bilateral notched vermilion-mucosa border - - Familial - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029070 DNA arraySNP - - TFAP2A 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
6 Maternal (confirmed) g.(7300000_7340000)_(10400000_10450000)del - - - chr6_000408 3.2 Mb deletion 6p24.3 (estimated from figure) PubMed: Milunsky 2008 - - Germline yes - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Maternal (confirmed) g.(7300000_10398649)_(10415219_10450000)del - - - TFAP2A_000000 - PubMed: Milunsky 2008 - - Germline yes - - 0 - Johan den Dunnen TFAP2A +/. - - - - - _1_7_ NM_003220.2:c.(?_-1)_(*1_?)del - - r.0 p.0 - - - - - - - - - - - - - - - - - - - - - - -
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