Myotonia congenita
At a minimum, these SNPs are known to be related, and others may also be
Myotonia congenita is a neuromuscular channelopathy that affects skeletal muscles. The disorder is caused by mutations in part of a CLCN1 gene encoding the ClC-1 Chloride channel, resulting in muscle fiber membranes to have an unusually exaggerated response to stimulation (hyperexcitability). Symptoms include delayed relaxation of the muscles after voluntary contraction (myotonia), and may also include stiffness, hypertrophy (enlargement), transient weakness in some mutations, and cramping.Wikipedia
The autosomal recessive form of myotonia congenita, known as Becker myotonia, is more common than the dominant form, which is known as Thomsen's disease. Mutations of the CLCN1 gene leading to either Becker or Thomsens in SNPedia include:
| rsid | i-id (23andMe) | synonym (c. or p.) | On chip? |
|---|---|---|---|
| rs80356696 | i5003260 | c.1655A>G, p.Gln552Arg | 23andMe v4, 23andMe v3 |
| rs80356700 | i5003264 | c.689G>A, p.Gly230Glu, G230E | 23andMe v4, 23andMe v3 |
| rs80356695 | n/a | c.1438C>A, p.Pro480Thr | |
| rs80356698 | n/a | c.2512_2513insCTCA | |
| rs80356686 | n/a | c.577G>A, p.Glu193Lys | |
| rs80356701 | n/a | c.920T>C, p.Phe307Ser | |
| rs80356694 | n/a | c.1439C>T, Pro480Leu | |
| rs80356685 | n/a | c.592C>G, p.Leu198Val | |
| rs80356690 | i5003259 | 23andMe v4, 23andMe v3 | |
| rs80356689 | n/a | c.857T>C, p.Val286Ala | |
| rs80356699 | i5003254 | 23andMe v4, 23andMe v3 | |
| rs121912810 | i5003253 | p.Ser189Phe | 23andMe v4, 23andMe v3 |
| rs80356691 | n/a | c.929C>T, Thr310Met |
| rsid | i-id (23andMe) | synonym (c. or p.) | On chip? |
|---|---|---|---|
| rs80356702 | i5003257 | c.950G>A, p.Arg317Gln | 23andMe v4, 23andMe v3 |
| rs80356693 | n/a | c.1412C>T, p.Ser471Phe | |
| rs80356692 | n/a | c.937G>A, Ala313Thr | |
| rs80356703 | n/a | c.1013G>A, p.Arg338Gln | |
| rs80356697 | n/a | c.1667T>A, p.Ile556Asn | |
| rs80356684 | n/a | c.394A>T, p.Ser132Cys | |
| rs80356688 | n/a | c.847C>T, p.Leu283Phe | |
| rs55960271 | i6056364 | c.2680C>T, p.Arg894Ter | 23andMe v4, Ancestry v2, Ancestry v2c, 23andMe v3, Ancestry v2d |
| rsid | i-id (23andMe) | synonym (c. or p.) | On chip? |
|---|---|---|---|
| rs80356704 | n/a | c.1592C>T, p.Ala531Val | |
| rs121912799 | n/a | p.Phe413Cys | |
| rs121912801 | n/a | ||
| rs121912805 | i5003258 | c.871G>A, p.Glu291Lys | 23andMe v4, 23andMe v3 |
| rs80356687 | n/a | c.803C>T, p.Thr268Met | |
| rs121912807 | n/a | c.1495G>A, p.Gly499Arg | |
| rs80356706 | i5003255 | 23andMe v4, 23andMe v3 |
