Variant #0000478227 (NC_000012.11:g.6131126C>T, VWF(NM_000552.3):c.3614G>A)

Individual ID 00234357
Chromosome 12
Allele Unknown
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.6131126C>T
DNA change (hg38) g.6021960C>T
Published as -
ISCN -
DB-ID VWF_000088 See all 53 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) Variant not found in online data sets
Owner Irene Corrales Insa
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 +?/. 27 c.3614G>A r.(?) p.(Arg1205His) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000235459 DNA PCRm;SEQ-NG-I - - VWF 2 Irene Corrales Insa