Individual #00331546

ID_report 14DG0816 , 16DG0111
Reference PubMed: Maddirevula 2018
Remarks family, 2 affected (2F)
Gender F
Consanguinity yes
Country -
Population Arab
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases skeletal dysplasia
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

dysplasia, skeletal (skeletal dysplasia)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000249738 skeletal dysplasia - Aplasia/Hypoplasia of the cerebellar vermis, Enlarged cisterna magna, Multicystic kidney No Familial, autosomal recessive - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332765 DNA SEQ;SEQ-NG - WES PGAP3 1 LOVD



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     

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 Both (homozygous) +/. - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - LOVD PGAP3 - - - - - - NM_033419.3:c.850C>T - r.(?) p.(His284Tyr) - - - - - - - - - - - - - - - - - - -
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