Variant #0000061127 (NC_000012.11:g.6204631G>A, VWF(NM_000552.3):c.652C>T)

Individual ID 00034049
Chromosome 12
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method EAHAD-CFDB
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6204631G>A
DNA change (hg38) g.6095465G>A
Published as -
ISCN -
DB-ID VWF_000036
Variant remarks -
Reference PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Daniel J Hampshire
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by 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 +/+? 6 c.652C>T r.(?) p.(Gln218*) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034118 DNA PCR;SEQ;SSCA - - VWF 1 Daniel J Hampshire