Individual #00107627

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country Japan
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases Healthy/Control
Owner name Johan den Dunnen


Phenotypes

arthrogryposis, lethal, with anterior horn cell disease (LAAHD) (LAAHD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000085392 - - Unknown - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108098 DNA SEQ;PCRdig - - LRP5 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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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     
11 Unknown -/. g.68192690G>A g.68425222G>A 3357A>G (V1119V) - LRP5_000036 - PubMed: Okubo 2002 - - Germline - 120/180 control chromosomes - 0 - Johan den Dunnen LRP5 - - - - - 15 NM_002335.3:c.3357G>A - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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