Individual #00414213

ID_report 159194
Reference -
Remarks -
Gender M
Consanguinity ?
Country Turkey
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases EIEE78
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2022-07-27 17:19:13 +02:00 (CEST)
Date last edited 2022-07-29 10:03:35 +02:00 (CEST)


Phenotypes

Epileptic encephalopathy, early infantile, 78 (EIEE78)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000306086 - - Global developmental delay, Hypotonia Unknown 02y - - - Andreas Laner



Screenings


AscendingScreening ID     

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Tissue     

Remarks     

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Variants found     

Owner     
0000415493 DNA SEQ-NG-I - - GABRA2 1 Andreas Laner



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     

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Reference     

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VIP     

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Owner     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

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RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

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Predict/MutationTaster     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
4 Unknown ?/. ACMG VUS (!) g.46264140T>C - - - GABRA2_000005 ACMG: PM1, PM2_SUP, PP2, PP3; threonine at position 288 is located in the "transmembrane" domain of the GABRA2 protein and is highly conserved across many species. So far, only missense variants in highly conserved amino acids of this transmembrane domain have been detected in affected patients. The neighbouring amino acid exchanges p.Thr292Ile, p.Thr292Lys and p.Leu291Val have been described as pathogenic. No missense variants in this region of the protein (between amino acid positions 278 and 317) are described in the gnomAD population database - - - Germline ? - - - - Andreas Laner GABRA2 - - - - 9 NM_000807.2:c.862A>G - r.(?) p.(Thr288Ala) - - - - - - - - - - - - - -
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