| Geno
|
Mag
|
Summary
|
| (A;A)
|
6
|
Congenital myasthenic syndrome
|
| (A;C)
|
3
|
carrier of one Myasthenic syndrome allele
|
| (C;C)
|
0
|
common in clinvar
|
rs104894299, also known as c.264C>A, p.Asn88Lys and N88K, is a mutation in the RAPSN gene on chromosome 11. The minor allele, rs104894299(A), is very rare, observed only 192 times out of 120660 alleles in ExAC, without any (minor) homozygotes, and a MAF of just 0.001591.
The N88K mutation is the most common one leading, when inherited recessively, to congenital myasthenic syndrome. For more information, see OMIM 601592.0001.
| ClinVar
|
| Risk
|
Rs104894299(A;A) |
| Alt
|
Rs104894299(A;A) |
| Reference
|
Rs104894299(C;C) |
| Significance |
Pathogenic |
| Disease |
Myasthenic syndrome Myasthenic syndrome not provided Congenital myasthenic syndrome Pena-Shokeir syndrome type I Congenital Myasthenic Syndrome Myopathy |
| Variation | info |
|---|
| Gene |
RAPSN |
| CLNDBN |
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency not provided Congenital myasthenic syndrome Pena-Shokeir syndrome type I Congenital Myasthenic Syndrome, Recessive Myopathy |
| Reversed |
1 |
| HGVS |
NC_000011.9:g.47469631G>T |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000008512.5, RCV000170316.2, RCV000224062.2, RCV000235028.1, RCV000286918.1, RCV000321043.1, RCV000414829.1, RCV000477955.1, |
