RGD:127235459 Rat Genome Database

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Variant: RGD:127235459 -  Homo sapiens

RGD ID: 127235459
RS ID: rs757481015
ClinVar ID: CV1061027
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 143,020,431
GRCh38 7 143,323,338
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000083.2:c.726T>A
NC_000007.14:g.143323338T>A
NR_046453.2:n.828T>A
NP_000074.3:p.Cys242Ter
More... 		12/15/2022 non-coding transcript 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: C to * (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQIYGHHKEQFSDREQDIGMPK
KTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDGIFLVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQ
FLVWVTFPLVLILFSALFCHLISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAGLGSGIPVGKEGPFVHIAS
I*AAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLA
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:22094069   PMID:23739125   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001382410 CLINVAR
  RCV001780315 CLINVAR
dbSNP (RS) rs757481015 CLINVAR
MedGen C0751360 CLINVAR
  C3661900 CLINVAR
NCBI Gene CLCN1 CLINVAR
OMIM 118425 CLINVAR
  160800 CLINVAR
  255700 CLINVAR
SNOMED CT 20305008 CLINVAR