Individual #00052747

ID_report -
Reference PubMed: Thompson 2000
Remarks -
Gender ?
Consanguinity no
Country ? (unknown)
Population ?
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases retinal degeneration
Owner name Muhammad Ajmal
Database submission license No license selected
Created by Muhammad Ajmal


Phenotypes

retinal degeneration (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

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Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Owner     
0000039324 retinal degeneration - - Familial, autosomal recessive - - 5y nystagmus, night blindness - Muhammad Ajmal



Screenings


AscendingScreening ID     

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Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052695 DNA PCR;SEQ;SSCA - - RPE65 2 Muhammad Ajmal



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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Exon     

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Exon_old     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Predict/Splice     

Legacy protein change     

Protein level     
1 Unknown +?/+? - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T->C - RPE65_000001 - PubMed: Thompson 2000 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ 0 - Muhammad Ajmal RPE65 - - - - 10 NM_000329.2:c.1102T>C - r.(?) p.(Tyr368His) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/? - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Thompson 2000 - - Germline yes - - 0 - Muhammad Ajmal RPE65 - - - - 1i NM_000329.2:c.11+5G>A - r.spl p.? - - - - - - - - - - - - - - - - - - -
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