Variant #0000241197 (NC_000012.11:g.6138595_6138597delinsTCA, VWF(NM_000552.3):c.2878_2880delinsTGA)

Individual ID 00147078
Chromosome 12
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method EAHAD-CFDB
Clinical classification unclassified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6138595_6138597delinsTCA
DNA change (hg38) g.6029429_6029431delinsTCA
Published as c.[2878C>T;2880G>A]
ISCN -
DB-ID VWF_000860
Variant remarks -
Reference PubMed: Acquila et al., 2009
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 Daniel J Hampshire
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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 +/. 22 c.2878_2880delinsTGA r.(?) p.(Arg960*) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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