RGD:13806820 Rat Genome Database

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Variant: RGD:13806820 -  Homo sapiens

RGD ID: 13806820
RS ID: rs529377088
ClinVar ID: CV566513
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 143,017,756
GRCh38 7 143,320,663
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.143320663G>A
NC_000007.13:g.143017756G>A
NG_009815.2:g.9538G>A
NM_000083.3:c.302-1G>A
More... 		08/24/2022 splice acceptor variant pathogenic Becker disease; Becker Generalized Myotonia; Becker's disease; Congenital myotonia, autosomal dominant form; Myotonia congenita autosomal dominant; Myotonia congenita autosomal recessive; Myotonia generalized; none provided; Thomsen disease; Thomsen's disease
Disease Annotations     Click to see Annotation Detail View
Becker disease  (IAGP)


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:16199547   PMID:17932099   PMID:18337730   PMID:22094069   PMID:23739125   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000700752 CLINVAR
  RCV002289981 CLINVAR
  RCV003489824 CLINVAR
dbSNP (RS) rs529377088 CLINVAR
MedGen C0751360 CLINVAR
  C3661900 CLINVAR
NCBI Gene CLCN1 CLINVAR
OMIM 118425 CLINVAR
  160800 CLINVAR
  255700 CLINVAR
SNOMED CT 20305008 CLINVAR