Genomic variant #0000061134

Individual ID 00034055
Chromosome 12
Allele Maternal (confirmed)
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.6184552A>G
DNA change (hg38) g.6075386A>G
Published as -
ISCN -
DB-ID VWF_000041
Variant remarks Functional analysis: rVWF expression in COS-7 cells
Reference PubMed: Baronciani et al., 2007
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
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 +/+? 7 c.823T>C r.(?) p.(Cys275Arg) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034124 DNA PCR;SEQ - - VWF 2 Daniel J Hampshire