RGD:14707615 Rat Genome Database

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Pathways
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Variant: RGD:14707615 -  Homo sapiens

RGD ID: 14707615
RS ID: rs200274258
ClinVar ID: CV646412
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GH-LCR  SCN4A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 62,020,426
GRCh38 17 63,943,066
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000334.4:c.4048G>A
NG_042788.1:g.25974C>T
NG_011699.1:g.34853G>A
NC_000017.11:g.63943066C>T
More... 		06/26/2020 missense variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIA; Congenital myasthenic syndrome, acetazolamide-responsive; Eulenburg disease; Familial hyperkalemic periodic paralysis; Gamstorp disease; Gamstorp episodic adynamy; Myotonia congenita intermittens; Myotonia congenita, acetazolamide-responsive; Myotonia congenita, atypical; none provided; Paralysis periodica paramyotonica; Paramyotonia congenita; SODIUM CHANNEL MUSCLE DISEASE; Von Eulenburg paramyotonia congenita
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SCN4A
Accession:NM_000334
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 1350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPSLCTLVPLGPECLRPFTRESLAAIEQRAVEEEARLQRNKQMEIEEPERKPRSDLEAGKNLPMIYGDPPPEVIGIPL
EDLDPYYSNKKTFIVLNKGKAIFRFSATPALYLLSPFSVVRRGAIKVLIHALFSMFIMITILTNCVFMTMSDPPPWSKNV
EYTFTGIYTFESLIKILARGFCVDDFTFLRDPWNWLDFSVIMMAYLTEFVDLGNISALRTFRVLRALKTITVIPGLKTIV
GALIQSVKKLSDVMILTVFCLSVFALVGLQLFMGNLRQKCVRWPPPFNDTNTTWYSNDTWYGNDTWYGNEMWYGNDSWYA
NDTWNSHASWATNDTFDWDAYISDEGNFYFLEGSNDALLCGNSSDAGHCPEGYECIKTGRNPNYGYTSYDTFSWAFLALF
RLMTQDYWENLFQLTLRAAGKTYMIFFVVIIFLGSFYLINLILAVVAMAYAEQNEATLAEDKEKEEEFQQMLEKFKKHQE
ELEKAKAAQALEGGEADGDPAHGKDCNGSLDTSQGEKGAPRQSSSGDSGISDAMEELEEAHQKCPPWWYKCAHKVLIWNC
CAPWLKFKNIIHLIVMDPFVDLGITICIVLNTLFMAMEHYPMTEHFDNVLTVGNLVFTGIFTAEMVLKLIAMDPYEYFQQ
GWNIFDSIIVTLSLVELGLANVQGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQ
LFGKSYKECVCKIALDCNLPRWHMHDFFHSFLIVFRILCGEWIETMWDCMEVAGQAMCLTVFLMVMVIGNLVVLNLFLAL
LLSSFSADSLAASDEDGEMNNLQIAIGRIKLGIGFAKAFLLGLLHGKILSPKDIMLSLGEADGAGEAGEAGETAPEDEKK
EPPEEDLKKDNHILNHMGLADGPPSSLELDHLNFINNPYLTIQVPIASEESDLEMPTEEETDTFSEPEDSKKPPQPLYDG
NSSVCSTADYKPPEEDPEEQAEENPEGEQPEECFTEACVQRWPCLYVDISQGRGKKWWTLRRACFKIVEHNWFETFIVFM
ILLSSGALAFEDIYIEQRRVIRTILEYADKVFTYIFIMEMLLKWVAYGFKVYFTNAWCWLDFLIVDVSIISLVANWLGYS
ELGPIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYYCINTTTSERFDI
SEVNNKSECESLMHTGQVRWLNVKVNYDNVGLGYLSLLQVATFKGWMDIMYAAVDSREKEEQPQYEVNLYMYLYFVIFII
FGSFFTLNLFIGVIIDNFNQQKKKLGGKDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPQNKIQGMVYDLMTKQAFDITIM
ILICLNMVTMMVETDNQSQLKVDILYNINMIFIIIFTGECVLKMLALRQYYFTVGWNIFDFVVVILSIVGLALSDLIQKY
FVSPTLFRVIRLARIGRVLRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMSNFAYVKKESGIDDMFNFE
TFGNSIICLFEITTSAGWDGLLNPILNSGPPDCDPNLENPGTSVKGDCGNPSIGICFFCSYIIISFLIVVNMYIAIILEN
FNVATEESSEPLGEDDFEMFYETWEKFDPDATQFIAYSRLSDFVDTLQEPLRIAKPNKIKLITLDLPMVPGDKIHCLDIL
FALTKEVLGDSGEMDALKQTMEEKFMAANPSKVSYEPITTTLKRKHEEVCAIKIQRAYRRHLLQRSMKQASYMYRHSHDG
SGDDAPEKEGLLANTMSKMYGHENGNSSSPSPEEKGEAGDAGPTMGLMPISPSDTAWPPAPPPGQTVRPGVKESLV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000807569 CLINVAR
  RCV001122806 CLINVAR
  RCV001122807 CLINVAR
  RCV001122808 CLINVAR
  RCV001122809 CLINVAR
  RCV001288744 CLINVAR
dbSNP (RS) rs200274258 CLINVAR
MedGen C0221055 CLINVAR
  C0238357 CLINVAR
  C2750061 CLINVAR
  C2931826 CLINVAR
  C3280112 CLINVAR
  C3661900 CLINVAR
NCBI Gene 106128904 CLINVAR
  SCN4A CLINVAR
OMIM 168300 CLINVAR
  170500 CLINVAR
  603967 CLINVAR
  608390 CLINVAR
  613345 CLINVAR
  614198 CLINVAR
SNOMED CT 278513006 CLINVAR