Individual #00207403

ID_report PGAP3 (2x)_individual 2
Reference PubMed: Yavarna et al., 2015
Remarks Paper presents a compilation of many genes. No detailed information on patient.
Gender -
Consanguinity -
Country -
Population Middle Eastern
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HPMRS4
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau


Phenotypes

hyperphosphatasia, with mental retardation syndrome, type 4 (HPMRS-4, glycosylphosphatidylinositol deficiency, type 10 (GPIBD-10)) (HPMRS4;GPIBD10)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000155174 ID, global DD, epilepsy, dysmorphism, microcephaly and other structural brain anomalies, autism - - Familial, autosomal recessive - - - - - Philippe Campeau



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208440 DNA SEQ;SEQ-NG Peripheral blood Clinical Exome Sequencing PGAP3 1 Philippe Campeau



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     

dbSNP ID     

Origin     

Segregation     

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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     

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Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
17 Unknown +/. - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 - - - - De novo - - - 0 - Philippe Campeau PGAP3 - - - - - - NM_033419.3:c.851A>G - r.(?) p.(His284Arg) - - - - - - - - - - - - - - - - - - -
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