Genomic variant #0000061125

Individual ID 00034048
Chromosome 12
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6204752T>C
DNA change (hg38) g.6095586T>C
Published as -
ISCN -
DB-ID VWF_000034 See all 4 reported entries
Variant remarks functional analysis of RNA from patient platelets & leukocytes
Reference PubMed: Corrales et al., 2011
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
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 +/+? 5i c.533-2A>G r.533_657del EAHAD-CFDB: +? p.Thr179Profs*31 - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034117 DNA;RNA PCR;RT-PCR;SEQ - - VWF 2 Daniel J Hampshire