Individual #00091439

ID_report -
Reference PubMed: Wang 2004
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases BFH
Owner name Judy Savige


Phenotypes

hematuria, benign, familial (BFH, thin basement membrane nephropathy (TBMN)) (BFH;TBMN)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000069886 - - - Unknown - - - - - Judy Savige



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000091584 DNA SSCA;SEQ - - COL4A3 1 Judy Savige



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 Unknown ./. g.228172594T>C g.227307878T>C - - COL4A3_000093 Polymorphism PubMed: Wang 2004 - - Germline - - - 0 - Judy Savige COL4A3 - - - - - 48 NM_000091.4:c.4421T>C - - r.(?) p.(Leu1474Pro) - - - - - - - - - - - - - - - - - - -
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