Individual #00072253

ID_report -
Reference PubMed: Xia 2014, Journal: Xia 2016
Remarks Family, 6-affected family members in a 5-generation Chinese family, II3
Gender F
Consanguinity -
Country China
Population Chinese
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 6
Diseases CTRCT-16, CTRCT-2
Owner name Jamie Zeegers


Phenotypes

cataract, type 16 (CTRCT-16, cataract, posterior polar, type 2 (CTPP-2)) (CTRCT-16;CTPP-2)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000053287 poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532) - - Familial, autosomal dominant - - - - - Jamie Zeegers



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072408 DNA PCR;SEQ-NG - - CRYAB 1 Jamie Zeegers



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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     
11 Parent #1 +?/. g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - 0 - Jamie Zeegers CRYAB - - - - - 1 NM_001885.1:c.59C>G - - r.(?) p.(Pro20Arg) - - - - - - - - - - - - - - - - - - -
Legend