Screening #0000022044

Individual ID 00022047
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Johan de Winter


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
FANCA Fanconi anemia, complementation group A 16 q24.3 1 1855 628 2019-07-08 FANCA



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

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