Individual #00000238

ID_report -
Reference -
Remarks -
Gender F
Consanguinity yes
Country Morocco
Population -
Age/Death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases HDBSCC
Owner name Nadia Nakawi


Phenotypes

hemorrhagic destruction of the brain, subependymal calcification, cataracts (HDBSCC) (HDBSCC)   Add phenotype for this disease
Stop! No phenotypes found!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000247 DNA SEQ - - JAM3 1 Nadia Nakawi



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 Both (homozygous) +/? g.133938980T>G g.134069085T>G - - JAM3_000001 - - - - Germline yes - - - - Nadia Nakawi JAM3 - - - - - 1 NM_032801.4:c.2T>G - - r.(?) p.0? - - - - - - - - - - - - - - - - - - -
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