Congenital myotonia, autosomal dominant form
An Autosomal dominant mode(s) within the Neuromuscular disorders category
Likely pathogenic
1
Pathogenic/Likely pathogenic
4
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) | Deletion | Chr7:143339287 - 143339300 | Pathogenic/Likely pathogenic | Frameshift variant|non-coding transcript variant | rs768119034 | |
| NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) | Single nucleotide variant | Chr7:143324442 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs80356687 |
.Lifecell International Pvt. Ltd |
| NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) | Single nucleotide variant | Chr7:143321729 | Likely pathogenic | Missense variant|non-coding transcript variant | rs80356686 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) | Single nucleotide variant | Chr7:143342013 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs80356697 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) | Single nucleotide variant | Chr7:143351678 | Pathogenic/Likely pathogenic | Nonsense|non-coding transcript variant | rs55960271 |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution