|
Variant ID: 308 |
Type | Deletion |
|---|---|---|
| Effect | Frameshift | cDNA Change | c.1325delT | LRG Change | LRG_583:g.24695del | Genomic Change | 24695del | Genomic HGVS Change | NG_008051.1:g.24695del |
| Amino Acid Change | p.(Leu442Cysfs*8) (Legacy AA No. 424) | |
| Domain | Serine Protease | |
| Codon Change | ||
| Location | Exon 12 | |
| Minor Allele Frequency (MAF) | 4.95E-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 |
|---|---|---|---|---|---|---|---|
| 833 | Homozygous | 3 | Asymptomatic | Shao et al 2016 | |||
| 857 | Heterozygous | 3 | Asymptomatic | Shao et al 2016 | |||
| 870 | Heterozygous | <1 | Asymptomatic | Shao et al 2016 | |||
| 1110 | Abstract only available: eight heterozygous family members mentioned in abstract but no phenotypic or clinical details provided | Heterozygous | 1 | <1 | Not Reported | Weng et al 2019 | |
| 1111 | Case 1111 | Heterozygous | 3 | 9 | Asymptomatic | Zhou et al 2019 | |
| 1113 | Father of case 1111 | Heterozygous | 60 | 63 | Asymptomatic | Zhou et al 2019 | |
| 1115 | Paternal grandfather of case 1111 | Heterozygous | 62 | 64 | Asymptomatic | Zhou et al 2019 | |
| 1121 | Eight heterozygous family members genotyped but no phenotypic or clinical details provided | Heterozygous | <1 | <1 | Asymptomatic | Lin F et al 2020 | |
| 1124 | Case 1124: easy bruising and ecchymoses: menorrhagia and prolonged excessive postpartum bleeding | Heterozygous | 1 | 4 | Mild | Lin HY et al 2020 | |
| 1127 | Son of case 1124 | Heterozygous | 53 | 55 | Asymptomatic | Lin HY et al 2020 | |
| 1138 | Homozygous | <1 | Asymptomatic | Lin HY et al 2020 |