Variant #0000694369 (NC_000012.11:g.6184504del, VWF(NM_000552.3):c.871del)

Individual ID 00311593
Chromosome 12
Allele Both (homozygous)
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.6184504del
DNA change (hg38) g.6075338del
Published as 871delT
ISCN -
DB-ID VWF_001087
Variant remarks -
Reference PubMed: Ahmed et al., 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Hamideh Yadegari
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 +/. - c.871del r.(?) p.(Cys291Alafs*166) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312765 DNA PCR;SEQ Blood - VWF 1 Hamideh Yadegari