RGD:13495791 Rat Genome Database

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Variant: RGD:13495791 -  Homo sapiens

RGD ID: 13495791
RS ID: rs113839156
ClinVar ID: CV456426
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 143,017,753
GRCh38 7 143,320,660
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009815.1:g.9535C>T
NC_000007.14:g.143320660C>T
NC_000007.13:g.143017753C>T
NM_000083.3:c.302-4C>T
More... 		02/21/2019 intron variant benign AllHighlyPenetrant; Becker disease; Becker Generalized Myotonia; Becker's disease; Congenital myotonia, autosomal dominant form; Myotonia congenita autosomal dominant; Myotonia congenita autosomal recessive; Myotonia generalized; Thomsen disease; Thomsen's disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLCN1
Accession:NM_000083
Location:INTRON

Gene Symbol:CLCN1
Accession:NR_046453
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000559881 CLINVAR
  RCV000612704 CLINVAR
  RCV001161534 CLINVAR
dbSNP (RS) rs113839156 CLINVAR
MedGen C0027127 CLINVAR
  C0751360 CLINVAR
  CN169374 CLINVAR
NCBI Gene CLCN1 CLINVAR
OMIM 118425 CLINVAR
  160800 CLINVAR
  255300 CLINVAR
  255700 CLINVAR
SNOMED CT 20305008 CLINVAR