Variant #0000046828 (NC_000012.11:g.6161882_6161885del, VWF(NM_000552.3):c.2016_2019del)

Individual ID 00024258
Chromosome 12
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method EAHAD-CFDB
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6161882_6161885del
DNA change (hg38) g.6052716_6052719del
Published as -
ISCN -
DB-ID VWF_000026
Variant remarks -
Reference PubMed: Baronciani et al., 2003
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Daniel J Hampshire
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Daniel J Hampshire
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 +/+? 16 c.2016_2019del r.(?) p.(Ser673Thrfs*67) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024252 DNA PCR;SEQ;SSCA - - VWF 2 Daniel J Hampshire