Genomic variant #0000170320

Individual ID 00104579
Chromosome 12
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6128787_6128795conNC_000022.11:17178924_17178932
DNA change (hg38) -
Published as -
ISCN -
DB-ID VWF_000194 See all 2 reported entries
Variant remarks -
Reference PubMed: Holmberg et al., 1993
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Daniel J Hampshire




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/SIFT     
VWF NM_000552.3 +/+? 28 c.3789_3797con[NG_001212.4:g.6520_6528] r.(=) EAHAD-CFDB: +? p.[(Ser1263=;Pro1266Leu)] - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105051 DNA PCR;SEQ - - VWF 1 Daniel J Hampshire