Individual #00001791

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country (United States)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases RP
Owner name Feng Wang
Database submission license No license selected
Created by Feng Wang
Date created 2013-08-08 18:56:07 +02:00 (CEST)
Date last edited 2013-08-27 23:21:07 +02:00 (CEST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001594 DNA SEQ-NG-I - - - 4 Feng Wang



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     
1 Unknown +/. - pathogenic g.94490567G>A g.94025011G>A - - ABCA4_000026 - - - - Unknown - - - - - Feng Wang ABCA4 - - - - 31 NM_000350.2:c.4577C>T - r.(?) p.(Thr1526Met) - - - - - - - - - - - - - -
1 Unknown +/. - pathogenic g.94508969G>A g.94043413G>A - - ABCA4_000021 - - - - Unknown - - - - - Feng Wang ABCA4 - - - - 21 NM_000350.2:c.3113C>T - r.(?) p.(Ala1038Val) - - - - - - - - - - - - - -
1 Unknown +/. - pathogenic g.94528806A>G g.94063250A>G - - ABCA4_000020 - - - - Unknown - - - - - Feng Wang ABCA4 - - - - 12 NM_000350.2:c.1622T>C - r.(?) p.(Leu541Pro) - - - - - - - - - - - - - -
1 Unknown +/. - pathogenic g.94564460G>A g.94098904G>A - - ABCA4_000056 - - - - Unknown - - - - - Feng Wang ABCA4 - - - - 6 NM_000350.2:c.658C>T - r.(?) p.(Arg220Cys) - - - - - - - - - - - - - -
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