Individual #00073190

ID_report 22876111-FamPatIV1
Reference PubMed: Guo 2012
Remarks PatIV1
Gender F
Consanguinity -
Country China
Population Chinese
Age/Death >01y (later than 1 year)
VIP 0
Data_av -
Treatment -
Panel ID 00073184
Panel size 1
Diseases CCTRCT
Owner name Jamie Zeegers


Phenotypes

cataract, congenital (CCTRCT) (CCTRCT)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000052858 bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) - - Familial, autosomal dominant - 01y - - - Jamie Zeegers



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073348 DNA PCR - - CRYGC 1 Jamie Zeegers



Variants

1 entry on 1 page. Showing entry 1.
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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 Maternal (confirmed) +/. g.208992981C>T g.208128257C>T - - CRYGC_000012 - PubMed: Guo 2012 - - Germline yes - - 0 - Jamie Zeegers CRYGC - - - - - 3 NM_020989.3:c.471G>A - - r.(?) p.(Trp157*) - - - - - - - - - - - - - - - - - - -
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