Variant ID: 153 |
Type | Point |
---|---|---|
Effect | Missense | cDNA Change | c.688T>A | LRG Change | LRG_583:g.15360T>A | Genomic Change | 15360T>A | Genomic HGVS Change | NG_008051.1:g.15360T>A |
Amino Acid Change | p.(Cys230Ser) (Legacy AA No. 212) | |
Domain | Apple 3 | |
Codon Change | TGC AGC | |
Location | Exon 7 | |
Minor Allele Frequency (MAF) | ||
Pathogenicity (ACMG)![]() |
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 |
---|---|---|---|---|---|---|---|
513 | Sister of case 514: postoperative bleeding | Heterozygous | <1 | Mild | Quelin et al 2009 | ||
514 | Case 514: spontaneous bruising and gingival bleeding: postoperative bleeding | Heterozygous | <1 | Mild | Quelin et al 2009 | ||
515 | Daughter of case 514 | Heterozygous | 38 | Not Reported | Quelin et al 2009 | ||
516 | Niece of case 514: easy bruising | Heterozygous | 35 | Mild | Quelin et al 2009 |