RGD:13484464 Rat Genome Database

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Variant: RGD:13484464 -  Homo sapiens

RGD ID: 13484464
RS ID: rs765181341
ClinVar ID: CV441042
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 143,021,558
GRCh38 7 143,324,465
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.143324465G>A
NC_000007.13:g.143021558G>A
NM_000083.3:c.826G>A
NM_000083.2:c.826G>A
More... 		09/20/2021 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQIYGHHKEQFSDREQDIGMPK
KTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDGIFLVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQ
FLVWVTFPLVLILFSALFCHLISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAGLGSGIPVGKEGPFVHIAS
ICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVSCCFGTPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLA
VWNKDAVTITALFRTNFRMDFPFDLKELPAFAAIGICCGLLGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTFV
IASFTFPPGMGQFMAGELMPREAISTLFDNNTWVKHAGDPESLGQSAVWIHPRVNVVIIIFLFFVMKFWMSIVATTMPIP
CGGFMPVFVLGAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYAVIGAAALTGAVSHTVSTAVICFELTGQIAHILPMM
VAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSKYTIFVEDIMVRDVKFVSASYTYGELRTLLQTTTVKTLPLV
DSKDSMILLGSVERSELQALLQRHLCPERRLRAAQEMARKLSELPYDGKARLAGEGLPGAPPGRPESFAFVDEDEDEDLS
GKSELPPSLALHPSTTAPLSPEEPNGPLPGHKQQPEAPEPAGQRPSIFQSLLHCLLGRARPTKKKTTQDSTDLVDNMSPE
EIEAWEQEQLSQPVCFDSCCIDQSPFQLVEQTTLHKTHTLFSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQL
RPPLASFRNTTSTRKSTGAPPSSAENWNLPEDRPGATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESP
GLEEELADILQGPSLRSTDEEDEDELIL*

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

Variant Samples
Additional References at PubMed
PMID:17932099   PMID:24037712   PMID:25741868   PMID:26467025   PMID:28492532   PMID:32117024  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000518465 CLINVAR
  RCV001071563 CLINVAR
  RCV001662525 CLINVAR
dbSNP (RS) rs765181341 CLINVAR
MedGen C0751360 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CLCN1 CLINVAR
OMIM 118425 CLINVAR
  160800 CLINVAR
  255700 CLINVAR
SNOMED CT 20305008 CLINVAR