RGD:12880840 Rat Genome Database

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Variant: RGD:12880840 -  Homo sapiens

RGD ID: 12880840
RS ID: rs747467877
ClinVar ID: CV400343
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCN4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 73,615,897
GRCh38 15 73,323,556
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_005477.3:c.2537C>T
NM_005477.2:c.2537C>T
NG_009063.1:g.50709C>T
NC_000015.10:g.73323556G>A
More... 		08/27/2020 missense variant likely benign|uncertain significance adult 1-5 / 10 000 none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HCN4
Accession:NM_005477
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 846
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDKLPPSMRKRLYSLPQQVGAKAWIMDEEEDAEEEGAGGRQDPSRRSIRLRPLPSPSPSAAAGGTESRSSALGAADSEGP
ARGAGKSSTNGDCRRFRGSLASLGSRGGGSGGTGSGSSHGHLHDSAEERRLIAEGDASPGEDRTPPGLAAEPERPGASAQ
PAASPPPPQQPPQPASASCEQPSVDTAIKVEGGAAAGDQILPEAEVRLGQAGFMQRQFGAMLQPGVNKFSLRMFGSQKAV
EREQERVKSAGFWIIHPYSDFRFYWDLTMLLLMVGNLIIIPVGITFFKDENTTPWIVFNVVSDTFFLIDLVLNFRTGIVV
EDNTEIILDPQRIKMKYLKSWFMVDFISSIPVDYIFLIVETRIDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQ
WEEIFHMTYDLASAVVRIVNLIGMMLLLCHWDGCLQFLVPMLQDFPDDCWVSINNMVNNSWGKQYSYALFKAMSHMLCIG
YGRQAPVGMSDVWLTMLSMIVGATCYAMFIGHATALIQSLDSSRRQYQEKYKQVEQYMSFHKLPPDTRQRIHDYYEHRYQ
GKMFDEESILGELSEPLREEIINFNCRKLVASMPLFANADPNFVTSMLTKLRFEVFQPGDYIIREGTIGKKMYFIQHGVV
SVLTKGNKETKLADGSYFGEICLLTRGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVALDRLDRIGKKNSI
LLHKVQHDLNSGVFNYQENEIIQQIVQHDREMAHCAHRVQAAASATPTPTPVIWTPLIQAPLQAAAATTSVAIALTHHPR
LPAAIFRPPPGSGLGNLGAGQTPRHLKRLQSLIPSALGSASPASSLSQVDTPSSSSFHIQQLAGFSAPAGLSPLLPSSSS
SPPPGACGSPSAPTPSAGVAATTIAGFGHFHKALGGSLSSSDSPLLTPLQPGARSPQAAQPSPAPPGARGGLGLPEHFLP
PPPSSRSPSSSPGQLGQPPGELSLGLATGPLSTPETPPRQPEPPSLVAGASGGASPVGFTPRGGLSPPGHSPGPPRTFPS
APPRASGSHGSLLLPPASSPPPPQVPQRRGTPPLTPGRLTQDLKLISASQPALPQDGAQTLRRASPHSSGESMAAFPLFP
RAGGGSGGSGSSGGLGPPGRPYGAIPGQHVTLPRKTSSGSLPPPLSLFGARATSSGGPPLTAGPQREPGARPEPVRSKLP
SNL*

Gene Symbol:HCN4
Accession:XM_011521148
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 440
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTYDLASAVVRIVNLIGMMLLLCHWDGCLQFLVPMLQDFPDDCWVSINNMVNNSWGKQYSYALFKAMSHMLCIGYGRQAP
VGMSDVWLTMLSMIVGATCYAMFIGHATALIQSLDSSRRQYQEKYKQVEQYMSFHKLPPDTRQRIHDYYEHRYQGKMFDE
ESILGELSEPLREEIINFNCRKLVASMPLFANADPNFVTSMLTKLRFEVFQPGDYIIREGTIGKKMYFIQHGVVSVLTKG
NKETKLADGSYFGEICLLTRGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVALDRLDRIGKKNSILLHKVQ
HDLNSGVFNYQENEIIQQIVQHDREMAHCAHRVQAAASATPTPTPVIWTPLIQAPLQAAAATTSVAIALTHHPRLPAAIF
RPPPGSGLGNLGAGQTPRHLKRLQSLIPSALGSASPASSLSQVDTPSSSSFHIQQLAGFSAPAGLSPLLPSSSSSPPPGA
CGSPSAPTPSAGVAATTIAGFGHFHKALGGSLSSSDSPLLTPLQPGARSPQAAQPSPAPPGARGGLGLPEHFLPPPPSSR
SPSSSPGQLGQPPGELSLGLATGPLSTPETPPRQPEPPSLVAGASGGASPVGFTPRGGLSPPGHSPGPPRTFPSAPPRAS
GSHGSLLLPPASSPPPPQVPQRRGTPPLTPGRLTQDLKLISASQPALPQDGAQTLRRASPHSSGESMAAFPLFPRAGGGS
GGSGSSGGLGPPGRPYGAIPGQHVTLPRKTSSGSLPPPLSLFGARATSSGGPPLTAGPQREPGARPEPVRSKLPSNL*
Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532   PMID:30847666  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000456750 CLINVAR
  RCV000711885 CLINVAR
  RCV003168728 CLINVAR
dbSNP (RS) rs747467877 CLINVAR
MedGen C2751083 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene HCN4 CLINVAR
OMIM 605206 CLINVAR
  613123 CLINVAR