Genomic variant #0000046764

Individual ID 00024228
Chromosome 12
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6232308C>T
DNA change (hg38) g.6123142C>T
Published as -
ISCN -
DB-ID VWF_000001 See all 2 reported entries
Variant remarks Functional analysis: rVWF expression in COS-7 cells; normal VWF expression when expressed in vitro
Reference PubMed: Goodeve et al., 2007; PubMed: Eikenboom et al., 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Daniel J Hampshire




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/SIFT     
VWF NM_000552.3 +?/. 2 c.55G>A r.(?) EAHAD-CFDB: . p.(Gly19Arg) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024220 DNA PCR;SEQ - - VWF 1 Daniel J Hampshire