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rs104894299

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6 Congenital myasthenic syndrome
(A;C) 3 carrier of one Myasthenic syndrome allele
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position47448079
GeneRAPSN
is asnp
is mentioned by
dbSNPrs104894299
ebirs104894299
HLIrs104894299
Exacrs104894299
Varsomers104894299
Maprs104894299
PheGenIrs104894299
hapmaprs104894299
1000 genomesrs104894299
hgdprs104894299
ensemblrs104894299
gopubmedrs104894299
geneviewrs104894299
scholarrs104894299
googlers104894299
pharmgkbrs104894299
gwascentralrs104894299
openSNPrs104894299
23andMers104894299
23andMe allrs104894299
SNP Nexus

SNPshotrs104894299
SNPdbers104894299
MSV3drs104894299
GWAS Ctlgrs104894299
GMAF0.001377
Max Magnitude6

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.

OMIM601592
Desc
Variant0001
Relatedalso
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
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
Reversed 1
HGVS NC_000011.9:g.47469631G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008512.5, RCV000170316.2, RCV000224062.1, RCV000235028.1,