Individual #00155025

ID_report -
Reference PubMed: Xue 2016
Remarks -
Gender F
Consanguinity no
Country China
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HPMRS-1
Owner name Philippe Campeau


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155890 DNA SEQ-NG - panel of 470 genes related to epilepsy - 2 Philippe Campeau



Variants

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

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
1 Paternal (confirmed) +?/. g.27121140C>G - NM_001202554:c.615C>G - PIGV_000017 - PubMed: Xue et al. 2016 - - Germline - - - 0 - Philippe Campeau PIGV - - - - - 2 NM_017837.3:c.615C>G - - r.(?) p.(Asn205Lys) - - - - - - - - - - - - - - - - - - -
1 Maternal (confirmed) +?/. g.27121379A>G - NM_001202554:c.854A>G - PIGV_000018 - PubMed: Xue et al. 2016 - - Germline - - - 0 - Philippe Campeau PIGV - - - - - 2 NM_017837.3:c.854A>G - - r.(?) p.(Tyr285Cys) - - - - - - - - - - - - - - - - - - -
Legend