Genomic variant #0000046817

Individual ID 00024253
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.6220079dup
DNA change (hg38) g.6110913dup
Published as -
ISCN -
DB-ID VWF_000015
Variant remarks -
Reference PubMed: Jorieux et al., 2000
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 +/. 4 c.276dup r.(?) EAHAD-CFDB: . p.(Asp93*) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024247 DNA PCR;SEQ;SSCA - - VWF 2 Daniel J Hampshire