Variant #0000694364 (NC_000012.11:g.6230460G>A, VWF(NM_000552.3):c.100C>T)

Individual ID 00311589
Chromosome 12
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method EAHAD-CFDB
Clinical classification unclassified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6230460G>A
DNA change (hg38) g.6121294G>A
Published as -
ISCN -
DB-ID VWF_000003 See all 4 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) 0 View details
Owner Hamideh Yadegari
Database submission license No license selected
Created by Johan den Dunnen
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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 +/. 3 c.100C>T r.(?) p.(Arg34*) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312761 DNA PCR;SEQ Blood - VWF 1 Hamideh Yadegari