
Patient data (#0000338) |
Disease |
- |
Reference |
United States:Salt Lake City |
Template |
DNA |
Technique |
SEQ |
Remarks |
- |
# Reported |
1 |
Submitter |
Andrew Paquette |
Variant data |
Allele |
Unknown |
Reported pathogenicity |
Unknown |
Concluded pathogenicity |
Unknown |
Exon |
27 |
DNA change |
c.9649-20C>T |
BIC DNA change |
IVS26-20C>T |
Protein change |
- |
Posterior P |
0.000 |
IARC Class |
1 - Not pathogenic or of no clinical significance |
Key Observational Reference |
Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. |
Prior P reference |
Vallee MP et al., Human Mutation 37: 627-639, 2016 |
Missense analysis Prior P |
- |
Splicing prior P |
0.04 |
Other Prior P |
0.00 |
Combined prior P |
0.04 |
Segregation LR |
3.39 |
Pathology LR |
- |
Sum Family LR |
0.05 |
Co-occurrence LR |
1.95E-04 |
case-control LR |
- |
Product of LRs |
3.31E-05 |
Comments |
- |
|