Individual #00095117

ID_report -
Reference -
Remarks -
Gender ?
Consanguinity no
Country -
Population -
Age/Death -
VIP 0
Data_av Yes
Treatment -
Panel size 1
Diseases Fraser
Owner name Karen Stals


Phenotypes

Fraser syndrome (Fraser)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000073512 Bilateral renal agenesis - - Familial, autosomal recessive - - - - - Karen Stals



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095515 DNA SEQ;SEQ-NG - - - 2 Karen Stals



Variants

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

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     

Non_Public     
4 Paternal (confirmed) g.79362314A>C g.78441160A>C - - FRAS1_000002 - - - - Germline yes - - 0 - Karen Stals FRAS1 +/. - - - - - 40i NM_025074.6:c.5530-2A>C - likely pathogenic r.spl? p.? - - - - - - - - - - - - - - - - - - - - - - - -
4 Maternal (confirmed) g.79368034G>A g.78446880G>A - - FRAS1_000003 - - - - Germline yes - - 0 - Karen Stals FRAS1 +?/. - - - - - 43 NM_025074.6:c.6010G>A - Likely pathogenic r.(?) p.(Gly2004Ser) - - - - - - - - - - - - - - - - - - - - - - - -
Legend