Variant #0000648638 (NC_000012.11:g.6204615T>G, VWF(NM_000552.3):c.657+11A>C)

Individual ID 00290781
Chromosome 12
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method other
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.6204615T>G
DNA change (hg38) g.6095449T>G
Published as -
ISCN -
DB-ID VWF_001010 See all 3 reported entries
Variant remarks 181 heterozygous; Clinindb (India)
Reference PubMed: Narang et al., 2020, Journal: Narang et al., 2020
ClinVar ID -
dbSNP ID rs7980045
Origin Germline
Segregation -
Frequency 181/2792 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0452 View details
Owner Mohammed Faruq
Database submission license No license selected
Created by Johan den Dunnen
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 -?/. 6i c.657+11A>C r.(=) p.(=) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291949 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq