Individual #00164256

ID_report Family 7 II.1
Reference Salomon 2011
Remarks -
Gender M
Consanguinity yes
Country Qatar
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases DIAR
Owner name Mamata Sivagnanam


Phenotypes

diarrhea (DIAR) (DIAR)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000129366 - congenital tufting enteropathy DIAR-5 Familial, autosomal recessive - - - - Mamata Sivagnanam



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165123 DNA SEQ - - EPCAM 1 Mamata Sivagnanam



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     
2 Both (homozygous) +/. g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - Mamata Sivagnanam EPCAM - - - - - 5 NM_002354.2:c.499dup - pathogenic r.(?) p.(Gln167Serfs*21) - - - - - - - - - - - - - - - - - - -
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