Genomic variant #0000046819

Individual ID 00024254
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.6219685_6219698del
DNA change (hg38) g.6110519_6110532del
Published as -
ISCN -
DB-ID VWF_000017
Variant remarks -
Reference PubMed: Kakela et al., 2006
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 +?/? 5 c.374_387del r.(?) EAHAD-CFDB: ? p.(Gly125Valfs*3) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024248 DNA DHPLC;PCR;SEQ - - VWF 2 Daniel J Hampshire