Variant #0000694508 (NC_000012.11:g.6181605C>T, VWF(NM_000552.3):c.1001G>A)

Individual ID 00311681
Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6181605C>T
DNA change (hg38) g.6072439C>T
Published as -
ISCN -
DB-ID VWF_000837 See all 3 reported entries
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
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.1001G>A r.(?) p.(Gly334Glu) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312853 DNA SEQ - - VWF 3 Johan den Dunnen