RGD:152092536 Rat Genome Database

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Variant: RGD:152092536 -  Homo sapiens

RGD ID: 152092536
RS ID: rs538428104
ClinVar ID: CV1593152
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GH-LCR  SCN4A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 62,023,010
GRCh38 17 63,945,650
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.3442-12C>T
NG_042788.1:g.28558G>A
NG_011699.1:g.32269C>T
NC_000017.10:g.62023010G>A
More... 		10/24/2021 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 RCV002094387 CLINVAR
dbSNP (RS) rs538428104 CLINVAR
MedGen C0238357 CLINVAR
NCBI Gene GH-LCR CLINVAR
  SCN4A CLINVAR
OMIM 170500 CLINVAR
  603967 CLINVAR
SNOMED CT 278513006 CLINVAR