Cardiofaciocutaneous syndrome 3
An Autosomal dominant mode(s) within the Multisystemic disorders category
Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_002755.4(MAP2K1):c.154G>C (p.Ala52Pro) | Single nucleotide variant | Chr15:66435100 | Likely pathogenic | Missense variant |
.Pediatrics Genetics, Post Graduate Institute of Medical Education and Research |
|
| NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys) | Single nucleotide variant | Chr15:66481793 | Likely pathogenic | Missense variant | rs1057519733 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar