RGD:14728758 Rat Genome Database

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Variant: RGD:14728758 -  Homo sapiens

RGD ID: 14728758
RS ID: rs756727116
ClinVar ID: CV648948
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNE1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 35,821,929
GRCh38 21 34,449,631
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000219.6:c.4A>T
NM_001127669.4:c.4A>T
NM_001270403.2:c.4A>T
LRG_290:g.66685A>T
More... 		10/01/2018 missense variant uncertain significance
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_000219
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270405
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270403
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001127668
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001127670
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:XM_047440764
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRMFLSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDP
FNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270404
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270402
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001127669
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000800190 CLINVAR
dbSNP (RS) rs756727116 CLINVAR
MedGen C0023976 CLINVAR
NCBI Gene KCNE1 CLINVAR
OMIM 176261 CLINVAR
SNOMED CT 9651007 CLINVAR