Genomic variant #0000480470

Individual ID 00235400
Chromosome 12
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6128479_6128749conNC_000022.11:17178616_17178886
DNA change (hg38) -
Published as -
ISCN -
DB-ID VWF_000658 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) Genomic location of variant could not be determined
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 +?/. 28 c.3835_4105con[NG_001212.4:g.6566_6836] r.(?) EAHAD-CFDB: . p.[(Val1279Ile;Gln1311*)] - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000236504 DNA PCRm;SEQ-NG-I - - VWF 1 Irene Corrales Insa