Variant #0000061135 (NC_000012.11:g.6128574G>A, VWF(NM_000552.3):c.4010C>T)

Individual ID 00034055
Chromosome 12
Allele Paternal (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.6128574G>A
DNA change (hg38) g.6019408G>A
Published as -
ISCN -
DB-ID VWF_000042 See all 5 reported entries
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 (gnomAD v.2.1.1) 0 View details
Owner Daniel J Hampshire
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Daniel J Hampshire
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/SIFT     
VWF NM_000552.3 +/+? 28 c.4010C>T r.(?) p.(Pro1337Leu) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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