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Variant ID: 81 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.296C>A | LRG Change | LRG_583:g.12185C>A | Genomic Change | 12185C>A | Genomic HGVS Change | NG_008051.1:g.12185C>A |
| Amino Acid Change | p.(Ser99Tyr) (Legacy AA No. 81) | |
| Domain | Apple 1 | |
| Codon Change | TCT TAT | |
| Location | Exon 4 | |
| Minor Allele Frequency (MAF) | 4.0E-6 | |
Pathogenicity (ACMG) Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic |
TBA | |
| Comments on Variant |
For missense variants click Main Menu AA Alignments link to view amino-acid sequence comparison.
The details of the cases reported with the above variant are listed below
| Case ID | Comments on Case | Other Variants found in case |
Genotype | FXI:C (%) | FXI:Ag (%) | Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Reference |
|---|---|---|---|---|---|---|---|
| 530 | Heterozygous | 57 | Not Reported | Saunders et al 2009 |