Individual #00326005

ID_report FamAPatII4
Reference PubMed: Roosing 2014, Journal: Roosing 2014
Remarks brother
Gender M
Consanguinity no
Country Turkey
Population -
Age at death >09y (later than 9 years)
VIP 0
Data_av -
Treatment -
Panel ID 00326002
Panel size 1
Diseases CORD
Owner name Jens Doets
Database submission license No license selected
Created by Jens Doets


Phenotypes

dystrophy, cone-rod (CORD) (CORD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000244572 cone-rod dystrophy Familial, autosomal recessive - CORD20 - 03y reduced visual acuity (HP:0007663) reduced visual acuity (HP:0007663), 6y-absent cone function - Jens Doets



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000327215 DNA SEQ blood WES POC1B 1 Jens Doets



Variants

1 entry on 1 page. Showing entry 1.
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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     

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     
12 Both (homozygous) +/. - pathogenic (recessive) g.89885848C>G g.89492071C>G - - POC1B_000001 - PubMed: Roosing 2014, Journal: Roosing 2014 - - Germline yes - - 0 - Jens Doets POC1B - - - - - - NM_172240.2:c.317G>C - r.(?) p.(Arg106Pro) - - - - - - - - - - - - - - - - - - -
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