Individual #00081878

ID_report -
Reference PubMed: Ardui 2016
Remarks -
Gender F
Consanguinity -
Country (Belgium)
Population -
Age/Death -
VIP 0
Data_av yes
Treatment -
Panel size 1
Diseases POF
Owner name Simon Ardui


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000082015 DNA SEQ-PB blood - FMR1 2 Simon Ardui



Variants

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

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
X Parent #1 g.146993570_146993629GGC[13]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000024 - - - - Germline - - - 0 - Simon Ardui FMR1 ?/. - - - - - 1 NM_002024.5:c.-128_-69GGC[13]GGA[1]GGC[9]GGA[1]GGC[9] FMR1[33]-13-1-9-1-9 - r.(?) p.? - - - - - - - - - - - - - - - - - - - - - - -
X Parent #2 g.146993570_146993629GGC[71]GGA[1]GGC[9] - - - FMR1_000064 - - - - Germline - - - 0 - Simon Ardui FMR1 ?/. - - - - - 1 NM_002024.5:c.-128_-69GGC[71]GGA[1]GGC[9] FMR1[81]-71-1-9 - r.(?) p.? - - - - - - - - - - - - - - - - - - - - - - -
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