Variant #0000704081 (NC_000012.11:g.6230399G>A, VWF(NM_000552.3):c.161C>T)

Individual ID 00320077
Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
Classification method EAHAD-CFDB
Clinical classification unclassified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6230399G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID VWF_001093
Variant remarks Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548
Reference Christopherson et al., 2020
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Pam Christopherson
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 -/? 3 c.161C>T r.(?) p.(Ala54Val) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000321262 DNA PCR;SEQ - - VWF 2 Pam Christopherson