Variant #0000127790 (NC_000012.11:g.6140746T>C, NC_000012.11(NM_000552.3):c.2686-2A>G (VWF))

Individual ID 00079010
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method EAHAD-CFDB
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6140746T>C
DNA change (hg38) g.6031580T>C
Published as -
ISCN -
DB-ID VWF_000136
Variant remarks -
Reference PubMed: Goodeve et al., 2007
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Daniel J Hampshire
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Daniel J Hampshire
Date created 2016-07-29 17:00:19 +02:00 (CEST)
Date last edited 2020-07-02 11:55:30 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VWF NM_000552.3 +/+? 20i c.2686-2A>G r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079201 DNA PCR;SEQ - - VWF 1 Daniel J Hampshire


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