Thrombophilia due to thrombin defect
An Autosomal dominant mode(s) within the Blood disorders category
Pathogenic/Likely pathogenic
3
Pathogenic/Likely pathogenic/Pathogenic, low penetrance; risk factor
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000506.5(F2):c.*97G>A | Single nucleotide variant | Chr11:46739505 | Pathogenic/Likely pathogenic/Pathogenic, low penetrance; risk factor | rs1799963 | ||
| NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) | Single nucleotide variant | Chr1:11801177 | Pathogenic/Likely pathogenic | Missense variant | rs767890671 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) | Single nucleotide variant | Chr1:11800250 | Pathogenic/Likely pathogenic | Missense variant | rs574132670 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) | Single nucleotide variant | Chr1:11802915 | Pathogenic/Likely pathogenic | Missense variant | rs763539350 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution