RGD:34890992 Rat Genome Database

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Variant: RGD:34890992 -  Homo sapiens

RGD ID: 34890992
RS ID: rs1219643674
ClinVar ID: CV915889
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNH2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 150,652,509
GRCh38 7 150,955,421
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_172057.3:c.83G>A
LRG_288t1:c.1128+1870G>A
NM_000238.4:c.1128+1870G>A
NM_001204798.2:c.83G>A
More... 		11/08/2018 intron variant likely benign Cardiac rhythm disease
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_001204798
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPAGKASRTGALRPRAQKGRVRRAVHISSLVAQEVLSLGADVLPEYKLQAPRIHRWTILHYSPFKAVWDWLILLLVIY
TAVFTPYSAAFLLKETEEGPPATECGYACQPLAVVDLIVDIMFIVDILINFRTTYVNANEEVVSHPGRIAVHYFKGWFLI
DMVAAIPFDLLIFGSGSEELIGLLKTARLLRLVRVARKLDRYSEYGAAVLFLLMCTFALIAHWLACIWYAIGNMEQPHMD
SRIGWLHNLGDQIGKPYNSSGLGGPSIKDKYVTALYFTFSSLTSVGFGNVSPNTNSEKIFSICVMLIGSLMYASIFGNVS
AIIQRLYSGTARYHTQMLRVREFIRFHQIPNPLRQRLEEYFQHAWSYTNGIDMNAVLKGFPECLQADICLHLNRSLLQHC
KPFRGATKGCLRALAMKFKTTHAPPGDTLVHAGDLLTALYFISRGSIEILRGDVVVAILGMGWGAGTGLEMPSAASRGAS
LLNMQSLGLWTWDCLQGHWAPLIHLNSGPPSGAMERSPTWGEAAELWGSHILLPFRIRHKQTLFASLK*

Gene Symbol:KCNH2
Accession:NM_172057
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPAGKASRTGALRPRAQKGRVRRAVHISSLVAQEVLSLGADVLPEYKLQAPRIHRWTILHYSPFKAVWDWLILLLVIY
TAVFTPYSAAFLLKETEEGPPATECGYACQPLAVVDLIVDIMFIVDILINFRTTYVNANEEVVSHPGRIAVHYFKGWFLI
DMVAAIPFDLLIFGSGSEELIGLLKTARLLRLVRVARKLDRYSEYGAAVLFLLMCTFALIAHWLACIWYAIGNMEQPHMD
SRIGWLHNLGDQIGKPYNSSGLGGPSIKDKYVTALYFTFSSLTSVGFGNVSPNTNSEKIFSICVMLIGSLMYASIFGNVS
AIIQRLYSGTARYHTQMLRVREFIRFHQIPNPLRQRLEEYFQHAWSYTNGIDMNAVLKGFPECLQADICLHLNRSLLQHC
KPFRGATKGCLRALAMKFKTTHAPPGDTLVHAGDLLTALYFISRGSIEILRGDVVVAILGKNDIFGEPLNLYARPGKSNG
DVRALTYCDLHKIHRDDLLEVLDMYPEFSDHFWSSLEITFNLRDTNMIPGSPGSTELEGGFSRQRKRKLSFRRRTDKDTE
QPGEVSALGPGRAGAGPSSRGRPGGPWGESPSSGPSSPESSEDEGPGRSSSPLRLVPFSSPRPPGEPPGGEPLMEDCEKS
SDTCNPLSGAFSGVSNIFSFWGDSRGRQYQELPRCPAPTPSLLNIPLSSPGRRPRGDVESRLDALQRQLNRLETRLSADM
ATVLQLLQRQMTLVPPAYSAVTTPGPGPTSTSPLLPVSPLPTLTLDSLSQVSQFMACEELPPGAPELPQEGPTRRLSLPG
QLGALTSQPLHRHGSDPGS*

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

Gene Symbol:KCNH2
Accession:NM_001406757
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_011516185
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406755
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_017012195
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_047420348
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_000238
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_017012196
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406756
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406753
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_172056
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_047420349
Location:INTRON

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001843121 CLINVAR
  RCV002068314 CLINVAR
dbSNP (RS) rs1219643674 CLINVAR
MedGen C0003811 CLINVAR
  C0023976 CLINVAR
NCBI Gene KCNH2 CLINVAR
OMIM 152427 CLINVAR
SNOMED CT 698247007 CLINVAR
  9651007 CLINVAR