Individual #00088066

ID_report -
Reference -
Remarks -
Gender F
Consanguinity ?
Country Germany
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases glaucoma, retinal disease
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2014-10-13 12:09:00 +02:00 (CEST)
Date last edited 2016-11-18 10:53:16 +01:00 (CET)


Phenotypes

glaucoma (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000066793 Glaucoma; retinitis pigmentosa; myopie, fuchs-corneal-dystrophy - - Unknown - - 34y - - Andreas Laner



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000088206 DNA SEQ - - ADAMTS10 4 Andreas Laner



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     

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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
19 Unknown -/- - benign g.8669867T>G g.8604982T>G - - ADAMTS10_000007 homozygous in controls - - rs11670030 Unknown - MAF G=0.0634/138 - - - Andreas Laner ADAMTS10 - - - - 8i NM_030957.2:c.435+30A>C - r.(?) p.(=) - - - - - - - - - - - - - -
19 Unknown -/- - benign g.8669873T>C g.8604988= - - ADAMTS10_000005 - - - rs7260282 Unknown - Global MAF T=0.1786/388 - - - Andreas Laner ADAMTS10 - - - - 8i NM_030957.2:c.435+24A>G - r.(?) p.(=) - - - - - - - - - - - - - -
19 Unknown -/- - benign g.8669931G>C g.8605046= - - ADAMTS10_000004 - - - rs7255721 Unknown - Global MAF G=0.1478/321 - - - Andreas Laner ADAMTS10 - - - - 8 NM_030957.2:c.401C>G - r.(?) p.(Thr134Ser) - - - - - - - - - - - - - -
19 Unknown -/- - benign g.8670147C>T g.8605262C>T - - ADAMTS10_000006 homozygous in controls - - rs62621197 Unknown - MAF T=0.0257/56 - - - Andreas Laner ADAMTS10 - - - - 6 NM_030957.2:c.185G>A - r.(?) p.(Arg62Gln) - - - - - - - - - - - - - -
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