Genomic variant #0000046852

Individual ID 00024267
Chromosome 12
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6219575T>A
DNA change (hg38) g.6110409T>A
Published as -
ISCN -
DB-ID VWF_000033
Variant remarks functional analysis rVWF expression in COS-7 cells
Reference PubMed: Goodeve et al., 2007; PubMed: Eikenboom et al., 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 +/+? 5 c.497A>T r.(?) EAHAD-CFDB: +? p.(Asn166Ile) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024259 DNA PCR;SEQ - - VWF 1 Daniel J Hampshire