Individual #00072650

ID_report -
Reference -
Remarks 1 family 1 affected
Gender -
Consanguinity -
Country United Kingdom (Great Britain); United States; Spain
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Jean-Pierre Bayley


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000052341 - - Unknown - - FH deficiency - - - - - Jean-Pierre Bayley



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072807 DNA SEQ - - FH 1 Jean-Pierre Bayley



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     
1 Parent #1 ?/+? g.241671943C>T g.241508643C>T Arg190His, R190H, R233H - FH_000048 Dominant negative mutation, UK, USA, Spain, not found in 720 chrom PubMed: Pollard - - Germline - - - 0 - Jean-Pierre Bayley FH - - - - - 5 NM_000143.3:c.698G>A - - r.(?) p.(Arg233His) - - - - - - - - - - - - - - - - - - -
Legend