Genomic variant #0000061480

Individual ID 00034396
Chromosome 12
Allele Both (homozygous)
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.6180488C>A
DNA change (hg38) g.6071322C>A
Published as -
ISCN -
DB-ID VWF_000057
Variant remarks -
Reference PubMed: Schneppenheim et al., 1994
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner 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 +/+? 10 c.1131G>T r.(?) p.(Trp377Cys) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034463 DNA PCR;SEQ;SSCA - - VWF 1 Daniel J Hampshire