Variant #0000693932 (NC_000012.11:g.6220098A>T, VWF(NM_000552.3):c.257T>A)

Individual ID 00311187
Chromosome 12
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method other
Clinical classification pathogenic (dominant)
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 -
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 Hamideh Yadegari
Database submission license No license selected
Created by Hamideh Yadegari
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 +/. 4 c.257T>A r.(?) p.(Val86Glu) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312344 DNA PCR;SEQ Blood - VWF 1 Hamideh Yadegari