RGD:13816442 Rat Genome Database

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Variant: RGD:13816442 -  Homo sapiens

RGD ID: 13816442
RS ID: rs758293600
ClinVar ID: CV574569
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GH-LCR  SCN4A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 62,018,379
GRCh38 17 63,941,019
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042788.1:g.23927G>A
NM_000334.4:c.5263C>T
NG_011699.1:g.36900C>T
NC_000017.11:g.63941019G>A
More... 		08/06/2018 missense variant uncertain significance ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIA; Congenital myasthenic syndrome 16; Congenital myasthenic syndrome, acetazolamide-responsive; Eulenburg disease; Familial hyperkalemic periodic paralysis; Gamstorp disease; Gamstorp episodic adynamy; Hyperkalemic periodic paralysis; Hypokalemic periodic paralysis, type 2; HypoPP; Myotonia congenita intermittens; Myotonia congenita, acetazolamide-responsive; Myotonia congenita, atypical; none provided; Paralysis periodica paramyotonica; Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg; Potassium-aggravated myotonia; SODIUM CHANNEL MUSCLE DISEASE; Von Eulenburg paramyotonia congenita
Disease Annotations     Click to see Annotation Detail View

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: R to C (nonsynonymous)
Amino Acid Position: 1755
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPSLCTLVPLGPECLRPFTRESLAAIEQRAVEEEARLQRNKQMEIEEPERKPRSDLEAGKNLPMIYGDPPPEVIGIPL
EDLDPYYSNKKTFIVLNKGKAIFRFSATPALYLLSPFSVVRRGAIKVLIHALFSMFIMITILTNCVFMTMSDPPPWSKNV
EYTFTGIYTFESLIKILARGFCVDDFTFLRDPWNWLDFSVIMMAYLTEFVDLGNISALRTFRVLRALKTITVIPGLKTIV
GALIQSVKKLSDVMILTVFCLSVFALVGLQLFMGNLRQKCVRWPPPFNDTNTTWYSNDTWYGNDTWYGNEMWYGNDSWYA
NDTWNSHASWATNDTFDWDAYISDEGNFYFLEGSNDALLCGNSSDAGHCPEGYECIKTGRNPNYGYTSYDTFSWAFLALF
RLMTQDYWENLFQLTLRAAGKTYMIFFVVIIFLGSFYLINLILAVVAMAYAEQNEATLAEDKEKEEEFQQMLEKFKKHQE
ELEKAKAAQALEGGEADGDPAHGKDCNGSLDTSQGEKGAPRQSSSGDSGISDAMEELEEAHQKCPPWWYKCAHKVLIWNC
CAPWLKFKNIIHLIVMDPFVDLGITICIVLNTLFMAMEHYPMTEHFDNVLTVGNLVFTGIFTAEMVLKLIAMDPYEYFQQ
GWNIFDSIIVTLSLVELGLANVQGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQ
LFGKSYKECVCKIALDCNLPRWHMHDFFHSFLIVFRILCGEWIETMWDCMEVAGQAMCLTVFLMVMVIGNLVVLNLFLAL
LLSSFSADSLAASDEDGEMNNLQIAIGRIKLGIGFAKAFLLGLLHGKILSPKDIMLSLGEADGAGEAGEAGETAPEDEKK
EPPEEDLKKDNHILNHMGLADGPPSSLELDHLNFINNPYLTIQVPIASEESDLEMPTEEETDTFSEPEDSKKPPQPLYDG
NSSVCSTADYKPPEEDPEEQAEENPEGEQPEECFTEACVQRWPCLYVDISQGRGKKWWTLRRACFKIVEHNWFETFIVFM
ILLSSGALAFEDIYIEQRRVIRTILEYADKVFTYIFIMEMLLKWVAYGFKVYFTNAWCWLDFLIVDVSIISLVANWLGYS
ELGPIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYYCINTTTSERFDI
SEVNNKSECESLMHTGQVRWLNVKVNYDNVGLGYLSLLQVATFKGWMDIMYAAVDSREKEEQPQYEVNLYMYLYFVIFII
FGSFFTLNLFIGVIIDNFNQQKKKLGGKDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPQNKIQGMVYDLVTKQAFDITIM
ILICLNMVTMMVETDNQSQLKVDILYNINMIFIIIFTGECVLKMLALRQYYFTVGWNIFDFVVVILSIVGLALSDLIQKY
FVSPTLFRVIRLARIGRVLRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMSNFAYVKKESGIDDMFNFE
TFGNSIICLFEITTSAGWDGLLNPILNSGPPDCDPNLENPGTSVKGDCGNPSIGICFFCSYIIISFLIVVNMYIAIILEN
FNVATEESSEPLGEDDFEMFYETWEKFDPDATQFIAYSRLSDFVDTLQEPLRIAKPNKIKLITLDLPMVPGDKIHCLDIL
FALTKEVLGDSGEMDALKQTMEEKFMAANPSKVSYEPITTTLKRKHEEVCAIKIQRAYRRHLLQRSMKQASYMYCHSHDG
SGDDAPEKEGLLANTMSKMYGHENGNSSSPSPEEKGEAGDAGPTMGLMPISPSDTAWPPAPPPGQTVRPGVKESLV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000706368 CLINVAR
  RCV002477631 CLINVAR
  RCV003141704 CLINVAR
dbSNP (RS) rs758293600 CLINVAR
MedGen C0238357 CLINVAR
  C3661900 CLINVAR
  C3714580 CLINVAR
NCBI Gene 106128904 CLINVAR
  SCN4A CLINVAR
OMIM 168300 CLINVAR
  170400 CLINVAR
  170500 CLINVAR
  603967 CLINVAR
  608390 CLINVAR
  613345 CLINVAR
  614198 CLINVAR
SNOMED CT 278513006 CLINVAR