RGD:11550920 Rat Genome Database

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Variant: RGD:11550920 -  Homo sapiens

RGD ID: 11550920
RS ID: rs9303466
ClinVar ID: CV256321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GH-LCR  SCN4A  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 62,022,711
GRCh38 17 63,945,351
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000334.4:c.3720+9G>T
NG_011699.1:g.32568G>T
NC_000017.11:g.63945351C>A
NC_000017.10:g.62022711C>A
More... 		11/15/2021 intron variant benign|likely benign ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIA; AllHighlyPenetrant; Congenital myasthenic syndrome 16; Congenital myasthenic syndrome, acetazolamide-responsive; Eulenburg disease; Familial hyperkalemic periodic paralysis; Gamstorp disease; Gamstorp episodic adynamy; Hyperkalemic periodic paralysis; Hypokalemic periodic paralysis, type 2; HypoPP; Myotonia congenita intermittens; Myotonia congenita, acetazolamide-responsive; Myotonia congenita, atypical; Paralysis periodica paramyotonica; Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg; Potassium-aggravated myotonia; SODIUM CHANNEL MUSCLE DISEASE; Von Eulenburg paramyotonia congenita
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SCN4A
Accession:NM_000334
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000252373 CLINVAR
  RCV000548877 CLINVAR
  RCV001122919 CLINVAR
  RCV001128615 CLINVAR
  RCV001128616 CLINVAR
  RCV001128617 CLINVAR
  RCV002500859 CLINVAR
dbSNP (RS) rs9303466 CLINVAR
MedGen C0221055 CLINVAR
  C0238357 CLINVAR
  C2750061 CLINVAR
  C2931826 CLINVAR
  C3280112 CLINVAR
  C3714580 CLINVAR
  CN169374 CLINVAR
NCBI Gene 106128904 CLINVAR
  SCN4A CLINVAR
OMIM 168300 CLINVAR
  170400 CLINVAR
  170500 CLINVAR
  603967 CLINVAR
  608390 CLINVAR
  613345 CLINVAR
  614198 CLINVAR
SNOMED CT 278513006 CLINVAR