Genomic variant #0000046801

Individual ID 00024246
Chromosome 12
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6230413G>T
DNA change (hg38) g.6121247G>T
Published as -
ISCN -
DB-ID VWF_000005
Variant remarks Functional analysis: rVWF expression in COS-7 cells
Reference PubMed: Hampshire et al., 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Daniel J Hampshire




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/SIFT     
VWF NM_000552.3 +?/. 3 c.147C>A r.(?) EAHAD-CFDB: . p.(Ser49Arg) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024240 DNA PCR;SEQ - - VWF 1 Daniel J Hampshire