Individual #00022047

ID_report -
Reference -
Remarks -
Gender ?
Consanguinity ?
Country ? (unknown)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases FANCA
Owner name Johan de Winter


Phenotypes

Fanconi anemia, complementation group A (FANCA) (FANCA)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000019818 - Unknown - - - - - - - Johan de Winter



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022044 DNA SEQ - - FANCA 2 Johan de Winter



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
16 Parent #1 +/. g.89883065_89805009del - - - FANCA_000008 - PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter FANCA - - - - - _1_43_ NM_000135.2:c.(?_-1)_(*1_?)del FA - r.0? p.0? - - - - - - - - - - - - - - - - - - -
16 Parent #2 +/. g.89828402T>C g.89761994T>C - - FANCA_000201 - PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter FANCA - - - - - 29 NM_000135.2:c.2807A>G FA - r.(?) p.(E936G) - - - - - - - - - - - - - - - - - - -
Legend