Variant #0000480443 (NC_000012.11:g.6204737C>T, VWF(NM_000552.3):c.546G>A)

Individual ID 00235382
Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method EAHAD-CFDB
Clinical classification unclassified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6204737C>T
DNA change (hg38) g.6095571C>T
Published as -
ISCN -
DB-ID VWF_000781 See all 3 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) 0.00128 View details
Owner Irene Corrales Insa
Database submission license No license selected
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 ?/. 6 c.546G>A r.(=) p.(Ser182=) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000236485 DNA PCRm;SEQ-NG-I - - VWF 3 Irene Corrales Insa