|
Variant ID: 154 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.688T>C | LRG Change | LRG_583:g.15360T>C | Genomic Change | 15360T>C | Genomic HGVS Change | NG_008051.1:g.15360T>C |
| Amino Acid Change | p.(Cys230Arg) (Legacy AA No. 212) | |
| Domain | Apple 3 | |
| Codon Change | TGC CGC | |
| Location | Exon 7 | |
| Minor Allele Frequency (MAF) | ||
Pathogenicity (ACMG) Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic |
TBA | |
| Comments on Variant | Abolition of Apple 3 disulphide link Cys230-Cys236 |
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 |
|---|---|---|---|---|---|---|---|
| 349 | No clinical description in publication | Homozygous | 1 | Not Reported | Mitchell et al 2006 | ||
| 180 | Conference abstract | Homozygous | Not Reported | Morishita et al 2003 | |||
| 154 | Conference abstract | Homozygous | Not Reported | Bolton-Maggs et al 2003 | |||
| 652 | Heterozygous | 48 | Asymptomatic | Kim et al 2012 | |||
| 974 | Case 974 | Heterozygous | 34 | Asymptomatic | Tiscia et al 2017 | ||
| 975 | Mother of case 974 | Heterozygous | 34 | Asymptomatic | Tiscia et al 2017 |