Variant #0000694483 (NC_000012.11:g.(6105389_6120782)_(6220135_6230339)del, VWF(NM_000552.3):c.(220+1_221-1)_(5842+1_5843-1)del)

Individual ID 00311685
Chromosome 12
Allele Unknown
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.(6105389_6120782)_(6220135_6230339)del
DNA change (hg38) -
Published as ex4-34 del
ISCN -
DB-ID VWF_001064
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/SIFT     
VWF NM_000552.3 +/. 3i_34i c.(220+1_221-1)_(5842+1_5843-1)del r.? p.? - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312857 DNA SEQ - - VWF 1 Johan den Dunnen