|
Variant ID: 106 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.434A>G | LRG Change | LRG_583:g.13261A>G | Genomic Change | 13261A>G | Genomic HGVS Change | NG_008051.1:g.13261A>G |
| Amino Acid Change | p.(His145Arg) (Legacy AA No. 127) | |
| Domain | Apple 2 | |
| Codon Change | CAC CGC | |
| Location | Exon 5 | |
| Minor Allele Frequency (MAF) | 0.000138 | |
Pathogenicity (ACMG) Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic |
TBA | |
| Comments on Variant | Suggested CRM +ve phenotype |
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 |
|---|---|---|---|---|---|---|---|
| 681 | Case 681: also positive for lupus anticoagulant | Heterozygous | 27 | 125 | Asymptomatic | Castaman et al 2013 | |
| 682 | Son of case 681 | Heterozygous | 52 | 118 | Asymptomatic | Castaman et al 2013 | |
| 683 | Son of case 681 | Heterozygous | 56 | 157 | Asymptomatic | Castaman et al 2013 | |
| 1139 | Easy bruising | Heterozygous | 7 | Mild | Lin HY et al 2020 | ||
| 1144 | Paternal grandfather of case 1145 | Heterozygous | 18 | Asymptomatic | Peng et al 2020 | ||
| 1145 | Case 1145: also heterozygous for a FGG variant | Heterozygous | 70 | Asymptomatic | Peng et al 2020 | ||
| 1146 | Father of case 1145: also heterozygous for a FGG variant | Heterozygous | 68 | Asymptomatic | Peng et al 2020 | ||
| 1147 | Paternal aunt of case 1145: also heterozygous for a FGG variant | Heterozygous | 72 | Asymptomatic | Peng et al 2020 |