Individual #00183353

ID_report 28849415-FamPatIII1
Reference PubMed: Dudakova 2017
Remarks -
Gender F
Consanguinity -
Country Czech Republic
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel ID 00183351
Panel size 1
Diseases CTRCT
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

cataract (CTRCT) (CTRCT)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000144089 9m-cataract (R+L), no light perception, no iris coloboma, microcornea (L+R), horizontal and rotatory nystagmus (L+R), accurate corneal diameter measurements could not be obtained cataract - Familial, autosomal dominant 23y - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184314 DNA SEQ - - MAF 1 Johan den Dunnen



Variants

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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
16 Paternal (inferred) +/. - pathogenic g.79632991G>T g.79599094G>T - - MAF_000025 - PubMed: Dudakova 2017 - - Germline yes - - 0 - Johan den Dunnen MAF - - - - - - NM_001031804.2:c.809C>A, NM_005360.4:c.809C>A - r.(?) p.(Ser270Tyr) - - - - - - - - - - - - - - - - - - - -
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