|
Variant ID: 176 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.783G>C | LRG Change | LRG_583:g.19076G>C | Genomic Change | 19076G>C | Genomic HGVS Change | NG_008051.1:g.19076G>C |
| Amino Acid Change | p.(Glu261Asp) (Legacy AA No. 243) | |
| Domain | Apple 3 | |
| Codon Change | GAG GAC | |
| Location | Exon 8 | |
| Minor Allele Frequency (MAF) | 5.97E-5 | |
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 |
|---|---|---|---|---|---|---|---|
| 302 | Heterozygous | 35 | Asymptomatic | Quelin et al 2005 | |||
| 303 | Easy bruising | Heterozygous | 35 | 28 | Mild | Quelin et al 2005 |