Variant #0000694484 (NC_000012.11:g.(6204751_6219539)_(6233836_?)del, VWF(NM_000552.3):c.-250_(532+1_533-1){0})

Individual ID 00311686
Chromosome 12
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(6204751_6219539)_(6233836_?)del
DNA change (hg38) -
Published as ex1-5 del
ISCN -
DB-ID VWF_001090
Variant remarks -
Reference PubMed: Yadegari 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/SIFT     
VWF NM_000552.3 +/. _1_5i c.-250_(532+1_533-1){0} r.? p.? - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312858 DNA SEQ - - VWF 2 Johan den Dunnen