RGD:9832373 Rat Genome Database

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Variant: RGD:9832373 -  Homo sapiens

RGD ID: 9832373
RS ID: rs560874115
ClinVar ID: CV178709
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCN4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 73,660,154
GRCh38 15 73,367,813
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_005477.2:c.458A>G
NG_009063.1:g.6452A>G
NC_000015.10:g.73367813T>C
NC_000015.9:g.73660154T>C
More... 		12/31/2019 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance adult 1-5 / 10 000 ATRIAL FIBRILLATION WITH BRADYARRHYTHMIA; Brugada syndrome 8; Cardiomyopathies; Epilepsy, idiopathic generalized, susceptibility to, 18; none provided; SICK SINUS SYNDROME 2; SICK SINUS SYNDROME 2 WITH OR WITHOUT CARDIAC NONCOMPACTION AND/OR ASCENDING AORTA DILATION; SINUS BRADYCARDIA SYNDROME, FAMILIAL, AUTOSOMAL DOMINANT; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL DOMINANT; Sudden unexpected nocturnal death syndrome; Sudden Unexplained Death Syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

Variant Details
Variant Transcripts
Gene Symbol:HCN4
Accession:NM_005477
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDKLPPSMRKRLYSLPQQVGAKAWIMDEEEDAEEEGAGGRQDPSRRSIRLRPLPSPSPSAAAGGTESRSSALGAADSEGP
ARGAGKSSTNGDCRRFRGSLASLGSRGGGSGGTGSGSSHGHLHDSAEERRLIAEGDASPGEDRTPPGLAAEPGRPGASAQ
PAASPPPPQQPPQPASASCEQPSVDTAIKVEGGAAAGDQILPEAEVRLGQAGFMQRQFGAMLQPGVNKFSLRMFGSQKAV
EREQERVKSAGFWIIHPYSDFRFYWDLTMLLLMVGNLIIIPVGITFFKDENTTPWIVFNVVSDTFFLIDLVLNFRTGIVV
EDNTEIILDPQRIKMKYLKSWFMVDFISSIPVDYIFLIVETRIDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQ
WEEIFHMTYDLASAVVRIVNLIGMMLLLCHWDGCLQFLVPMLQDFPDDCWVSINNMVNNSWGKQYSYALFKAMSHMLCIG
YGRQAPVGMSDVWLTMLSMIVGATCYAMFIGHATALIQSLDSSRRQYQEKYKQVEQYMSFHKLPPDTRQRIHDYYEHRYQ
GKMFDEESILGELSEPLREEIINFNCRKLVASMPLFANADPNFVTSMLTKLRFEVFQPGDYIIREGTIGKKMYFIQHGVV
SVLTKGNKETKLADGSYFGEICLLTRGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVALDRLDRIGKKNSI
LLHKVQHDLNSGVFNYQENEIIQQIVQHDREMAHCAHRVQAAASATPTPTPVIWTPLIQAPLQAAAATTSVAIALTHHPR
LPAAIFRPPPGSGLGNLGAGQTPRHLKRLQSLIPSALGSASPASSPSQVDTPSSSSFHIQQLAGFSAPAGLSPLLPSSSS
SPPPGACGSPSAPTPSAGVAATTIAGFGHFHKALGGSLSSSDSPLLTPLQPGARSPQAAQPSPAPPGARGGLGLPEHFLP
PPPSSRSPSSSPGQLGQPPGELSLGLATGPLSTPETPPRQPEPPSLVAGASGGASPVGFTPRGGLSPPGHSPGPPRTFPS
APPRASGSHGSLLLPPASSPPPPQVPQRRGTPPLTPGRLTQDLKLISASQPALPQDGAQTLRRASPHSSGESMAAFPLFP
RAGGGSGGSGSSGGLGPPGRPYGAIPGQHVTLPRKTSSGSLPPPLSLFGARATSSGGPPLTAGPQREPGARPEPVRSKLP
SNL*

Gene Symbol:HCN4
Accession:XM_011521148
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28341588   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000157245 CLINVAR
  RCV000618430 CLINVAR
  RCV000723946 CLINVAR
  RCV000852712 CLINVAR
  RCV001082507 CLINVAR
  RCV001117433 CLINVAR
  RCV003224176 CLINVAR
  RCV003907485 CLINVAR
dbSNP (RS) rs560874115 CLINVAR
MedGen C0007193 CLINVAR
  C1142166 CLINVAR
  C1834144 CLINVAR
  C2751083 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene HCN4 CLINVAR
OMIM 163800 CLINVAR
  601144 CLINVAR
  605206 CLINVAR
  613123 CLINVAR
  619521 CLINVAR
SNOMED CT 195021004 CLINVAR
  418818005 CLINVAR