Genomic variant #0000487205

Individual ID 00240232
Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6220105G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID VWF_000907 See all 2 reported entries
Variant remarks -
Reference PubMed: BorrĂ s et al., 2017
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Irene Corrales Insa




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 +?/. 4 c.250C>T r.(?) EAHAD-CFDB: . p.(Leu84Phe) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241335 DNA PCRm;SEQ-NG-I - - VWF 3 Irene Corrales Insa