Genomic variant #0000170312

Individual ID 00104575
Chromosome 12
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6234884G>A
DNA change (hg38) g.6125718G>A
Published as -
ISCN -
DB-ID VWF_000177 See all 3 reported entries
Variant remarks -
Reference PubMed: James et al., 2007a
ClinVar ID -
dbSNP ID rs151088025
Origin Unknown
Segregation ?
Frequency 0.99/0.01
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
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 -?/? _1 c.-1298C>T r.(=) EAHAD-CFDB: ? p.(=) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105047 DNA PCR;SEQ - - VWF 3 Daniel J Hampshire