Individual #00308694

ID_report -
Reference PubMed: Le 2019
Remarks analysis 305 unrelated individuals
Gender -
Consanguinity -
Country Viet Nam
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases Healthy/Control
Owner name Global Variome, with Curator vacancy


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309839 DNA SEQ;SEQ-NG - 105 WGS/200 WES SCN9A 1 Global Variome, with Curator vacancy



Variants

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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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
2 Unknown -?/. - likely benign g.167162344C>T g.166305834C>T - - SCN9A_000150 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.023 - 0 - Global Variome, with Curator vacancy SCN9A - - - - - - NM_002977.3:c.554G>A - r.(?) p.(Arg185His) - - - - - - - - - - - - - - - - - - - -
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