Individual #00152096

ID_report -
Reference PubMed: Singh 2009
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases EIEE-6
Owner name Christoph Lossin


Phenotypes

encephalopathy, epileptic, early infantile, type 6 (EIEE-6, Dravet syndrome) (EIEE-6)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000124442 - febrile seizures EiEE-6 Unknown - - - - - Christoph Lossin



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152953 DNA SEQ - - SCN9A 1 Christoph Lossin



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     

ClinVar ID     

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Owner     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

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Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
2 Unknown +/. - pathogenic g.167168083T>C g.166311573T>C - - SCN9A_000012 - PubMed: Singh 2009 - - Germline - - - 0 - Christoph Lossin SCN9A - - - - - 2 NM_002977.3:c.184A>G - r.(?) p.(Ile62Val) N-terminus - - - - - - - - - - - - - - - - - - -
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