Screening #0000156064

Individual ID 00155200
Template DNA
Technique SEQ-NG
Tissue -
Remarks WES
Variants found? 2
Owner name Philippe Campeau


Variants found

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     
2 Paternal (confirmed) +?/. g.197737731A>T - - - PGAP1_000013 - PubMed: Williams et al. 2015 - - Germline - - - 0 - Philippe Campeau PGAP1 - - - - - - NM_024989.3:c.1572T>A - - r.(?) p.(Tyr524*) - - - - - - - - - - - - - - - - - - -
2 Maternal (confirmed) +?/. g.197740500G>A - - - PGAP1_000014 - PubMed: Williams et al. 2015 - - Germline - - - 0 - Philippe Campeau PGAP1 - - - - - - NM_024989.3:c.1396C>T - - r.(?) p.(Gln466*) - - - - - - - - - - - - - - - - - - -
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