RGD:8686737 Rat Genome Database

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Variant: RGD:8686737 -  Homo sapiens

RGD ID: 8686737
RS ID: rs199473350
ClinVar ID: CV136430
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNE1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 35,821,850
GRCh38 21 34,449,552
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_290t1:c.83C>T
LRG_290:g.66764C>T
NG_009091.1:g.66764C>T
NC_000021.9:g.34449552G>A
More... 		10/18/2023 missense variant pathogenic|uncertain significance|not provided Familial long QT syndrome; Long QT syndrome 5; none provided; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNE1
Accession:NM_001270405
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMLGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270403
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMLGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001127668
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMLGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:XM_047440764
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRMILSNTTAVTPFLTKLWQETVQQGGNMLGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDP
FNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270402
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMLGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001127669
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMLGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_000219
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMLGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001127670
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMLGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270404
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMLGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*
Variant Samples
Additional References at PubMed
PMID:16379539   PMID:19716085   PMID:19841298   PMID:19862833   PMID:22429796   PMID:22581653   PMID:23124029   PMID:25741868   PMID:25916402   PMID:25956966   PMID:27784853   PMID:28492532  
PMID:30461122   PMID:31941373   PMID:32058015  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000119094 CLINVAR
  RCV000413822 CLINVAR
  RCV000621764 CLINVAR
  RCV001247384 CLINVAR
  RCV002492405 CLINVAR
dbSNP (RS) rs199473350 CLINVAR
MedGen C0023976 CLINVAR
  C1141890 CLINVAR
  C2676723 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNE1 CLINVAR
OMIM 176261 CLINVAR
  192500 CLINVAR
  612347 CLINVAR
  613695 CLINVAR
SNOMED CT 442917000 CLINVAR
  9651007 CLINVAR