RGD:14701512 Rat Genome Database

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Variant: RGD:14701512 -  Homo sapiens

RGD ID: 14701512
RS ID: rs1586483209
ClinVar ID: CV635808
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 143,016,966
GRCh38 7 143,319,873
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.299A>G
NC_000007.13:g.143016966A>G
NM_000083.2:c.299A>G
NP_000074.3:p.Gln100Arg
More... 		07/06/2018 missense variant uncertain significance 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
Becker disease  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:CLCN1
Accession:NM_000083
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQIYGHHKEQFSDREQDIGMPK
KTGSSSTVDSKDEDHYSKCRDCIHRLGQVVRRKLGEDGIFLVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQ
FLVWVTFPLVLILFSALFCHLISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAGLGSGIPVGKEGPFVHIAS
ICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLA
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000817027 CLINVAR
dbSNP (RS) rs1586483209 CLINVAR
MedGen C0751360 CLINVAR
NCBI Gene CLCN1 CLINVAR
OMIM 118425 CLINVAR
  160800 CLINVAR
  255700 CLINVAR
SNOMED CT 20305008 CLINVAR