An
Autosomal dominant, Autosomal recessive
mode(s) within the
Aging disorders
category
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar
Likely pathogenic
1
Pathogenic
1
| Variant name | Variant type | Germline classification | Molecular consequence | Grch38 Location | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_170707.4(LMNA):c.1968G>T (p.Gln656His) | single nucleotide variant | Likely pathogenic | missense variant|intron variant | Chr1:156138757 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
|
| NM_170707.4(LMNA):c.1824C>T (p.Gly608=) | single nucleotide variant | Pathogenic | synonymous variant|intron variant | Chr1:156138613 | rs58596362 |
.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