rs80338792

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs80338792(C;C)

Make rs80338792(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63943846

Gene

SCN4A

is a	snp
is	mentioned by
dbSNP	rs80338792
dbSNP (classic)	rs80338792
ClinGen	rs80338792
ebi	rs80338792
HLI	rs80338792
Exac	rs80338792
Gnomad	rs80338792
Varsome	rs80338792
LitVar	rs80338792
Map	rs80338792
PheGenI	rs80338792
Biobank	rs80338792
1000 genomes	rs80338792
hgdp	rs80338792
ensembl	rs80338792
geneview	rs80338792
scholar	rs80338792
google	rs80338792
pharmgkb	rs80338792
gwascentral	rs80338792
openSNP	rs80338792
23andMe	rs80338792
SNPshot	rs80338792
SNPdbe	rs80338792
MSV3d	rs80338792
GWAS Ctlg	rs80338792

Max Magnitude

0

OMIM	603967
Desc
Variant	0007
Related	also

OMIM	603967
Desc
Variant	0012
Related	also

OMIM	603967
Desc
Variant	0025
Related	also

ClinVar
Risk	rs80338792(A;A) rs80338792(C;C) rs80338792(T;T)
Alt	rs80338792(A;A) rs80338792(C;C) rs80338792(T;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 UniProtKB (protein) HGMD
CLNACC	RCV000006264.4, RCV000006265.4, RCV000479620.1, RCV000006271.6, RCV000153907.3, RCV000279294.1, RCV000006283.4, RCV000489251.1,

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