RGD:127243420 Rat Genome Database

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Variant: RGD:127243420 -  Homo sapiens

RGD ID: 127243420
RS ID: rs958817327
ClinVar ID: CV1083378
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN4A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 62,049,589
GRCh38 17 63,972,229
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011699.1:g.5690C>A
NC_000017.11:g.63972229G>T
NC_000017.10:g.62049589G>T
NM_000334.4:c.393-4C>A
 06/23/2020 intron variant likely benign Adynamia episodica hereditaria with or without myotonia; Familial hyperkalemic periodic paralysis; Gamstorp disease; Gamstorp episodic adynamy
Disease Annotations     Click to see Annotation Detail View

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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001398370 CLINVAR
dbSNP (RS) rs958817327 CLINVAR
MedGen C0238357 CLINVAR
NCBI Gene SCN4A CLINVAR
OMIM 170500 CLINVAR
  603967 CLINVAR
SNOMED CT 278513006 CLINVAR