Genomic variant #0000241198

Individual ID 00147078
Chromosome 12
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_6058180)_(6233587_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID VWF_000645
Variant remarks -
Reference PubMed: Acquila et al., 2009
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Daniel J Hampshire




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/SIFT     
VWF NM_000552.3 +/. _1_52_ c.(?_-1)_(*1_?)del r.0 EAHAD-CFDB: . p.0 - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000147934 DNA MLPA;PCR;SEQ - - VWF 2 Daniel J Hampshire