Individual #00091509

ID_report -
Reference -
Remarks COL4A3 variant present in mother (haematuria), sister (haematuria, mild proteinuria and FSGS), brother (ESRF and FSGS), daughter (haematuria).
Gender F
Consanguinity -
Country -
Population Britain/Spain
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases BFH
Owner name Daniel Gale


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     
0000069956 Microscopic haematuria and <1g/day proteinuria. Biopsy shows FSGS and 20% tubular atrophy. EM: Foot process effacement, few mesangial electron dense desposits, GBMs very thin but thick in places with splitting.; no hearing loss; no ocular phenotype; glomerulus abnormal - - Unknown - - - - - Daniel Gale



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000091654 DNA SEQ - - COL4A3 3 Daniel Gale



Variants

3 entries on 1 page. Showing entries 1 - 3.
Legend  

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 Maternal (confirmed) ?/. g.228137692G>C g.227272976G>C - - COL4A3_000040 - - - - Germline - - - 0 - Daniel Gale COL4A3 - - - - - 26 NM_000091.4:c.1786G>C - - r.(?) p.(Gly596Arg) - - - - - - - - - - - - - - - - - - -
2 Maternal (confirmed) +/. g.228142227G>A g.227277511G>A - - COL4A3_000044 - - - - Germline - - - 0 - Daniel Gale COL4A3 - - - - - 28 NM_000091.4:c.2083G>A - - r.(?) p.(Gly695Arg) - - - - - - - - - - - - - - - - - - -
2 Unknown +/. g.228142227G>A g.227277511G>A - - COL4A3_000044 - - - - Germline - - - 0 - Daniel Gale COL4A3 - - - - - 28 NM_000091.4:c.2083G>A - - r.(?) p.(Gly695Arg) - - - - - - - - - - - - - - - - - - -
Legend