RGD:8623366 Rat Genome Database

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Variant: RGD:8623366 -  Homo sapiens

RGD ID: 8623366
RS ID: rs199473487
ClinVar ID: CV78449
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNH2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 150,672,008
GRCh38 7 150,974,920
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_288t2:c.98A>C
LRG_288:g.8007A>C
NG_008916.1:g.8007A>C
NC_000007.14:g.150974920T>G
More... 		05/26/2020 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNH2
Accession:NM_001406755
Location:5UTRS;EXON

Gene Symbol:KCNH2
Accession:XM_017012196
Location:5UTRS;EXON

Gene Symbol:KCNH2
Accession:XM_047420348
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWGGVLDSSPTFATDCHVTLSDSSLFGSQVPGLWRRGRLSVPSLYSRISVKGRKFIIATARVENCAVIYCNDGFCELCGY
SRAEVMQRPCTCDFLHGPRTQRRAAAQIAQALLGAEERKVEIAFYRKDGSCFLCLVDVVPVKNEDGAVIMFILNFEVVME
KDMVGSPAHDTNHRGPPTSWLAPGRAKTFRLKLPALLALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAPSSESLALDE
VTAMDNHVAGLGPAEERRALVGPGSPPRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESCASVRRASSADDIEAMRAG
VLPPPPRHASTGAMHPLRSGLLNSTSDSDLVRYRTISKIPQITLNFVDLKGDPFLASPTSDREIIAPKIKERTHNVTEKV
TQVLSLGADVLPEYKLQAPRIHRWTILHYSPFKAVWDWLILLLVIYTAVFTPYSAAFLLKETEEGPPATECGYACQPLAV
VDLIVDIMFIVDILINFRTTYVNANEEVVSHPGRIAVHYFKGWFLIDMVAAIPFDLLIFGSGSEELIGLLKTARLLRLVR
VARKLDRYSEYGAAVLFLLMCTFALIAHWLACIWYAIGNMEQPHMDSRIGWLHNLGDQIGKPYNSSGLGGPSIKDKYVTA
LYFTFSSLTSVGFGNVSPNTNSEKIFSICVMLIGSLMYASIFGNVSAIIQRLYSGTARYHTQMLRVREFIRFHQIPNPLR
QRLEEYFQHAWSYTNGIDMNAVLKGFPECLQADICLHLNRSLLQHCKPFRGATKGCLRALAMKFKTTHAPPGDTLVHAGD
LLTALYFISRGSIEILRGDVVVAILGKNDIFGEPLNLYARPGKSNGDVRALTYCDLHKIHRDDLLEVLDMYPEFSDHFWS
SLEITFNLRDTNMIPGSPGSTELEGGFSRQRKRKLSFRRRTDKDTEQPGEVSALGPGRAGAGPSSRGRPGGPWGESPSSG
PSSPESSEDEGPGRSSSPLRLVPFSSPRPPGEPPGGEPLMEDCEKSSDTCNPLSGAFSGVSNIFSFWGDSRGRQYQELPR
CPAPTPSLLNIPLSSPGRRPRGDVESRLDALQRQLNRLETRLSADMATVLQLLQRQMTLVPPAYSAVTTPGPGPTSTSPL
LPVSPLPTLTLDSLSQVSQFMACEELPPGAPELPQEGPTRRLSLPGQLGALTSQPLHRHGSDPGS*

Gene Symbol:KCNH2
Accession:XM_047420349
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWGGVLDSSPTFATDCHVTLSDSSLFGSQVPGLWRRGRLSVPSLYSRISVKGRKFIIATARVENCAVIYCNDGFCELCGY
SRAEVMQRPCTCDFLHGPRTQRRAAAQIAQALLGAEERKVEIAFYRKDGSCFLCLVDVVPVKNEDGAVIMFILNFEVVME
KDMVGSPAHDTNHRGPPTSWLAPGRAKTFRLKLPALLALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAPSSESLALDE
VTAMDNHVAGLGPAEERRALVGPGSPPRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESCASVRRASSADDIEAMRAG
VLPPPPRHASTGAMHPLRSGLLNSTSDSDLVRYRTISKIPQITLNFVDLKGDPFLASPTSDREIIAPKIKERTHNVTEKV
TQVLSLGADVLPEYKLQAPRIHRWTILHYSPFKAVWDWLILLLVIYTAVFTPYSAAFLLKETEEGPPATECGYACQPLAV
VDLIVDIMFIVDILINFRTTYVNANEEVVSHPGRIAVHYFKGWFLIDMVAAIPFDLLIFGSGSEELIGLLKTARLLRLVR
VARKLDRYSEYGAAVLFLLMCTFALIAHWLACIWYAIGNMEQPHMDSRIGWLHNLGDQIGKPYNSSGLGGPSIKDKYVTA
LYFTFSSLTSVGFGNVSPNTNSEKIFSICVMLIGSLMYASIFGNVSAIIQRLYSGTARYHTQMLRVREFIRFHQIPNPLR
QRLEEYFQHAWSYTNGIDMNAVLKGFPECLQADICLHLNRSLLQHCKPFRGATKGCLRALAMKFKTTHAPPGDTLVHAGD
LLTALYFISRGSIEILRGDVVVAILGKNDIFGEPLNLYARPGKSNGDVRALTYCDLHKIHRDDLLEVLDMYPEFSDHFWS
SLEITFNLRDTNMIPGSPGSTELEGGFSRQRKRKLSFRRRTDKAPGPPESRRVGSP*

Gene Symbol:KCNH2
Accession:NM_000238
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIATARVENCAVIYCNDGFCELCGYSRAEVMQRPCTCDFLHGPRTQRRAAA
QIAQALLGAEERKVEIAFYRKDGSCFLCLVDVVPVKNEDGAVIMFILNFEVVMEKDMVGSPAHDTNHRGPPTSWLAPGRA
KTFRLKLPALLALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAPSSESLALDEVTAMDNHVAGLGPAEERRALVGPGSP
PRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESCASVRRASSADDIEAMRAGVLPPPPRHASTGAMHPLRSGLLNSTS
DSDLVRYRTISKIPQITLNFVDLKGDPFLASPTSDREIIAPKIKERTHNVTEKVTQVLSLGADVLPEYKLQAPRIHRWTI
LHYSPFKAVWDWLILLLVIYTAVFTPYSAAFLLKETEEGPPATECGYACQPLAVVDLIVDIMFIVDILINFRTTYVNANE
EVVSHPGRIAVHYFKGWFLIDMVAAIPFDLLIFGSGSEELIGLLKTARLLRLVRVARKLDRYSEYGAAVLFLLMCTFALI
AHWLACIWYAIGNMEQPHMDSRIGWLHNLGDQIGKPYNSSGLGGPSIKDKYVTALYFTFSSLTSVGFGNVSPNTNSEKIF
SICVMLIGSLMYASIFGNVSAIIQRLYSGTARYHTQMLRVREFIRFHQIPNPLRQRLEEYFQHAWSYTNGIDMNAVLKGF
PECLQADICLHLNRSLLQHCKPFRGATKGCLRALAMKFKTTHAPPGDTLVHAGDLLTALYFISRGSIEILRGDVVVAILG
KNDIFGEPLNLYARPGKSNGDVRALTYCDLHKIHRDDLLEVLDMYPEFSDHFWSSLEITFNLRDTNMIPGSPGSTELEGG
FSRQRKRKLSFRRRTDKDTEQPGEVSALGPGRAGAGPSSRGRPGGPWGESPSSGPSSPESSEDEGPGRSSSPLRLVPFSS
PRPPGEPPGGEPLMEDCEKSSDTCNPLSGAFSGVSNIFSFWGDSRGRQYQELPRCPAPTPSLLNIPLSSPGRRPRGDVES
RLDALQRQLNRLETRLSADMATVLQLLQRQMTLVPPAYSAVTTPGPGPTSTSPLLPVSPLPTLTLDSLSQVSQFMACEEL
PPGAPELPQEGPTRRLSLPGQLGALTSQPLHRHGSDPGS*

Gene Symbol:KCNH2
Accession:NM_172056
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIATARVENCAVIYCNDGFCELCGYSRAEVMQRPCTCDFLHGPRTQRRAAA
QIAQALLGAEERKVEIAFYRKDGSCFLCLVDVVPVKNEDGAVIMFILNFEVVMEKDMVGSPAHDTNHRGPPTSWLAPGRA
KTFRLKLPALLALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAPSSESLALDEVTAMDNHVAGLGPAEERRALVGPGSP
PRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESCASVRRASSADDIEAMRAGVLPPPPRHASTGAMHPLRSGLLNSTS
DSDLVRYRTISKIPQITLNFVDLKGDPFLASPTSDREIIAPKIKERTHNVTEKVTQVLSLGADVLPEYKLQAPRIHRWTI
LHYSPFKAVWDWLILLLVIYTAVFTPYSAAFLLKETEEGPPATECGYACQPLAVVDLIVDIMFIVDILINFRTTYVNANE
EVVSHPGRIAVHYFKGWFLIDMVAAIPFDLLIFGSGSEELIGLLKTARLLRLVRVARKLDRYSEYGAAVLFLLMCTFALI
AHWLACIWYAIGNMEQPHMDSRIGWLHNLGDQIGKPYNSSGLGGPSIKDKYVTALYFTFSSLTSVGFGNVSPNTNSEKIF
SICVMLIGSLMYASIFGNVSAIIQRLYSGTARYHTQMLRVREFIRFHQIPNPLRQRLEEYFQHAWSYTNGIDMNAVLKGF
PECLQADICLHLNRSLLQHCKPFRGATKGCLRALAMKFKTTHAPPGDTLVHAGDLLTALYFISRGSIEILRGDVVVAILG
MGWGAGTGLEMPSAASRGASLLNMQSLGLWTWDCLQGHWAPLIHLNSGPPSGAMERSPTWGEAAELWGSHILLPFRIRHK
QTLFASLK*

Gene Symbol:KCNH2
Accession:NR_176254
Location:EXON;NON-CODING

Gene Symbol:KCNH2
Accession:NM_001406753
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406757
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_017012195
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001204798
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_011516185
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406756
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_172057
Location:INTRON

Gene Symbol:KCNH2
Accession:NR_176255
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:10187793   PMID:10973849   PMID:11854117   PMID:14661677   PMID:19841300   PMID:19926013   PMID:21536673   PMID:22396785   PMID:22581653   PMID:22949429   PMID:23174487   PMID:23303164  
PMID:23631430   PMID:25417810   PMID:26958806   PMID:28087566   PMID:28492532   PMID:29305421   PMID:29725305   PMID:31557540   PMID:34801551  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000058282 CLINVAR
  RCV000780363 CLINVAR
  RCV003343627 CLINVAR
dbSNP (RS) rs199473487 CLINVAR
MedGen C0023976 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNH2 CLINVAR
OMIM 152427 CLINVAR
SNOMED CT 9651007 CLINVAR