Variant #0000694365 (NC_000012.11:g.6220098A>T, VWF(NM_000552.3):c.257T>A)

Individual ID 00311590
Chromosome 12
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.6220098A>T
DNA change (hg38) g.6110932A>T
Published as -
ISCN -
DB-ID VWF_001039 See all 2 reported entries
Variant remarks -
Reference PubMed: Ahmed et al., 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Hamideh Yadegari
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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 +/. - c.257T>A r.(?) p.(Val86Glu) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312762 DNA PCR;SEQ Blood - VWF 1 Hamideh Yadegari