RGD:13705402 Rat Genome Database

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Variant: RGD:13705402 -  Homo sapiens

RGD ID: 13705402
RS ID: rs746125212
ClinVar ID: CV536725
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 143,036,388
GRCh38 7 143,339,295
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000083.3:c.1444G>A
NP_000074.3:p.Gly482Arg
NC_000007.13:g.143036388G>A
NC_000007.14:g.143339295G>A
More... 		05/03/2021 missense variant pathogenic|likely 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:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 482
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQIYGHHKEQFSDREQDIGMPK
KTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDGIFLVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQ
FLVWVTFPLVLILFSALFCHLISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAGLGSGIPVGKEGPFVHIAS
ICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLA
VWNKDAVTITALFRTNFRMDFPFDLKELPAFAAIGICCGLLGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTFV
IASFTFPPGMGQFMAGELMPREAISTLFDNNTWVKHAGDPESLGQSAVWIHPRVNVVIIIFLFFVMKFWMSIVATTMPIP
CRGFMPVFVLGAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYAVIGAAALTGAVSHTVSTAVICFELTGQIAHILPMM
VAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSKYTIFVEDIMVRDVKFVSASYTYGELRTLLQTTTVKTLPLV
DSKDSMILLGSVERSELQALLQRHLCPERRLRAAQEMARKLSELPYDGKARLAGEGLPGAPPGRPESFAFVDEDEDEDLS
GKSELPPSLALHPSTTAPLSPEEPNGPLPGHKQQPEAPEPAGQRPSIFQSLLHCLLGRARPTKKKTTQDSTDLVDNMSPE
EIEAWEQEQLSQPVCFDSCCIDQSPFQLVEQTTLHKTHTLFSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQL
RPPLASFRNTTSTRKSTGAPPSSAENWNLPEDRPGATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESP
GLEEELADILQGPSLRSTDEEDEDELIL*

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

Variant Samples
Additional References at PubMed
PMID:8533761   PMID:10644771   PMID:15311340   PMID:15786415   PMID:17097617   PMID:18035046   PMID:22346025   PMID:25065301   PMID:25741868   PMID:28492532   PMID:31567646  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019088 CLINVAR
  RCV000657922 CLINVAR
  RCV000810078 CLINVAR
dbSNP (RS) rs746125212 CLINVAR
MedGen C0751360 CLINVAR
  C3661900 CLINVAR
NCBI Gene CLCN1 CLINVAR
OMIM 118425 CLINVAR
  160800 CLINVAR
  255700 CLINVAR
OMIM Allele 118425.0005 CLINVAR
SNOMED CT 20305008 CLINVAR