RGD:13526360 Rat Genome Database

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Variant: RGD:13526360 -  Homo sapiens

RGD ID: 13526360
RS ID: rs1554433799
ClinVar ID: CV502243
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 143,013,458
GRCh38 7 143,316,365
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.153C>T
NM_000083.2:c.153C>T
NG_009815.1:g.5240C>T
NC_000007.13:g.143013458C>T
More... 		05/11/2017 non-coding transcript variant|synonymous variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CLCN1
Accession:NM_000083
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQIYGHHKEQFSDREQDIGMPK
KTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDGIFLVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQ
FLVWVTFPLVLILFSALFCHLISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAGLGSGIPVGKEGPFVHIAS
ICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLA
VWNKDAVTITALFRTNFRMDFPFDLKELPAFAAIGICCGLLGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTFV
IASFTFPPGMGQFMAGELMPREAISTLFDNNTWVKHAGDPESLGQSAVWIHPRVNVVIIIFLFFVMKFWMSIVATTMPIP
CGGFMPVFVLGAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYAVIGAAALTGAVSHTVSTAVICFELTGQIAHILPMM
VAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSKYTIFVEDIMVRDVKFVSASYTYGELRTLLQTTTVKTLPLV
DSKDSMILLGSVERSELQALLQRHLCPERRLRAAQEMARKLSELPYDGKARLAGEGLPGAPPGRPESFAFVDEDEDEDLS
GKSELPPSLALHPSTTAPLSPEEPNGPLPGHKQQPEAPEPAGQRPSIFQSLLHCLLGRARPTKKKTTQDSTDLVDNMSPE
EIEAWEQEQLSQPVCFDSCCIDQSPFQLVEQTTLHKTHTLFSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQL
RPPLASFRNTTSTRKSTGAPPSSAENWNLPEDRPGATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESP
GLEEELADILQGPSLRSTDEEDEDELIL*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000604052 CLINVAR
dbSNP (RS) rs1554433799 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CLCN1 CLINVAR
OMIM 118425 CLINVAR