Variant #0000694511 (NC_000012.11:g.6140659C>T, VWF(NM_000552.3):c.2771G>A)

Individual ID 00311686
Chromosome 12
Allele Unknown
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.6140659C>T
DNA change (hg38) g.6031493C>T
Published as -
ISCN -
DB-ID VWF_000128 See all 38 reported entries
Variant remarks -
Reference PubMed: Yadegari 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01061 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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 +/. - c.2771G>A r.(?) p.(Arg924Gln) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312858 DNA SEQ - - VWF 2 Johan den Dunnen