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rs80338792

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs80338792(C;C)
Make rs80338792(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63943846
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338792
ebirs80338792
HLIrs80338792
Exacrs80338792
Varsomers80338792
Maprs80338792
PheGenIrs80338792
hapmaprs80338792
1000 genomesrs80338792
hgdprs80338792
ensemblrs80338792
gopubmedrs80338792
geneviewrs80338792
scholarrs80338792
googlers80338792
pharmgkbrs80338792
gwascentralrs80338792
openSNPrs80338792
23andMers80338792
23andMe allrs80338792
SNP Nexus

SNPshotrs80338792
SNPdbers80338792
MSV3drs80338792
GWAS Ctlgrs80338792
Max Magnitude0
OMIM603967
Desc
Variant0007
Relatedalso
OMIM603967
Desc
Variant0012
Relatedalso
OMIM603967
Desc
Variant0025
Relatedalso
ClinVar
Risk rs80338792(A,C,T;A,C,T)
Alt rs80338792(A,C,T;A,C,T)
Reference rs80338792(G;G)
Significance Pathogenic
Disease Paramyotonia congenita of von Eulenburg Potassium aggravated myotonia not provided
Variation info
Gene SCN4A
CLNDBN Paramyotonia congenita of von Eulenburg Potassium aggravated myotonia not provided
Reversed 1
HGVS NC_000017.10:g.62021206C>A; NC_000017.10:g.62021206C>G; NC_000017.10:g.62021206C>T
CLNSRC OMIM Allelic Variant HGMD
CLNACC RCV000006264.4, RCV000006265.4, RCV000006271.6, RCV000153907.3, RCV000006283.3,


[PMID 7741283] Masseter muscle rigidity associated with glycine1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene.


[PMID 7980103] Myotonia fluctuans. A third type of muscle sodium channel disease.


[PMID 8308722OA-icon.png] Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.