Individual #00155270

ID_report F-II-3
Reference PubMed: Knaus 2016
Remarks -
Gender M
Consanguinity no
Country -
Population Japanese
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HPMRS1
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156134 DNA;RNA SEQ-NG fibroblasts or blood exome sequencing - 2 Philippe Campeau



Variants

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

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     
17 Paternal (confirmed) +?/. - likely pathogenic g.37829361A>G g.39673108A>G - - PGAP3_000018 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau PGAP3 - - - - - - NM_033419.3:c.842T>C - r.(?) p.(Leu281Pro) - - - - - - - - - - - - - - - - - - -
17 Maternal (confirmed) +?/. - likely pathogenic g.37830292A>G g.39674039A>G - - PGAP3_000017 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau PGAP3 - - - - - - NM_033419.3:c.511T>C - r.(?) p.(Cys171Arg) - - - - - - - - - - - - - - - - - - -
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