RGD:11644577 Rat Genome Database

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Variant: RGD:11644577 -  Homo sapiens

RGD ID: 11644577
RS ID: rs886053237
ClinVar ID: CV346746
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GH-LCR  SCN4A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 62,015,920
GRCh38 17 63,938,560
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_000334.4:c.*2211C>T
NG_011699.1:g.39359C>T
NC_000017.11:g.63938560G>A
NC_000017.10:g.62015920G>A
More...
06/14/2016 3 prime utr variant uncertain significance adolescent|childhood 1-9 / 1 000 000 ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIA; Congenital myasthenic syndrome, acetazolamide-responsive; Eulenburg disease; Gamstorp disease; Gamstorp episodic adynamy; Myotonia congenita intermittens; Myotonia congenita, acetazolamide-responsive; Myotonia congenita, atypical; Paralysis periodica paramyotonica; Paramyotonia congenita; 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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000260905 CLINVAR
  RCV000292659 CLINVAR
  RCV000332500 CLINVAR
  RCV000375452 CLINVAR
  RCV000389242 CLINVAR
dbSNP (RS) rs886053237 CLINVAR
MedGen C0221055 CLINVAR
  C0238357 CLINVAR
  C2750061 CLINVAR
  C2931826 CLINVAR
  C3280112 CLINVAR
NCBI Gene 106128904 CLINVAR
  SCN4A CLINVAR
OMIM 168300 CLINVAR
  170500 CLINVAR
  603967 CLINVAR
  608390 CLINVAR
  613345 CLINVAR
  614198 CLINVAR
SNOMED CT 278513006 CLINVAR