Developmental and epileptic encephalopathy, 42
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Pathogenic
1
Pathogenic/Likely pathogenic
3
Uncertain significance
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001127222.2(CACNA1A):c.6901C>G (p.Pro2301Ala) | Single nucleotide variant | Chr19:13207933 | Uncertain significance | 3 prime UTR variant|missense variant | rs1351010453 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_001127222.2(CACNA1A):c.1924G>A (p.Asp642Asn) | Single nucleotide variant | Chr19:13307844 | Uncertain significance | Missense variant | rs2057938033 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) | Single nucleotide variant | Chr19:13262780 | Pathogenic/Likely pathogenic | Missense variant | rs1057520918 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) | Single nucleotide variant | Chr19:13365448 | Pathogenic/Likely pathogenic | Missense variant | rs121908225 |
.Lifecell International Pvt. Ltd |
| NM_001127222.2(CACNA1A):c.4148A>G (p.Tyr1383Cys) | Single nucleotide variant | Chr19:13261552 | Pathogenic/Likely pathogenic | Missense variant | rs121908219 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) | Single nucleotide variant | Chr19:13303877 | Pathogenic | Missense variant | rs121908212 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar