An
Autosomal dominant, Autosomal recessive
mode(s) within the
Blood disorders
category
Likely pathogenic
1
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000552.5(VWF):c.3944G>A (p.Arg1315His) | Single nucleotide variant | Chr12:6019474 | Likely pathogenic | Missense variant | rs61749396 | |
| NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) | Single nucleotide variant | Chr12:6019475 | Pathogenic/Likely pathogenic | Missense variant | rs61749395 | |
| NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) | Single nucleotide variant | Chr12:6019583 | Uncertain significance | Missense variant | rs61749376 |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution