Variant #0000484162 (NC_000012.11:g.6219696_6219697delinsG, VWF(NM_000552.3):c.375_376delinsC)

Individual ID 00239041
Chromosome 12
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method EAHAD-CFDB
Clinical classification unclassified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6219696_6219697delinsG
DNA change (hg38) g.6110530_6110531delinsG
Published as -
ISCN -
DB-ID VWF_000019 See all 7 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 (gnomAD v.2.1.1) Variant not found in online data sets
Owner Irene Corrales Insa
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Daniel J Hampshire
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/SIFT     
VWF NM_000552.3 +?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000240148 DNA PCRm;SEQ-NG-I - - VWF 3 Irene Corrales Insa