RGD:126762466 Rat Genome Database

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Variant: RGD:126762466 -  Homo sapiens

RGD ID: 126762466
RS ID: rs1980991765
ClinVar ID: CV1014323
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNE1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 35,821,722
GRCh38 21 34,449,424
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.211C>G
NM_001127668.4:c.211C>G
NM_001127669.4:c.211C>G
NM_001127670.4:c.211C>G
More... 		05/14/2020 missense variant uncertain significance 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:KCNE1
Accession:NM_000219
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKVEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001127668
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKVEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001127670
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKVEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270402
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKVEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270403
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKVEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:XM_047440764
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRMILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKVEHSNDP
FNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270404
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKVEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270405
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKVEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001127669
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKVEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001318944 CLINVAR
  RCV003156336 CLINVAR
dbSNP (RS) rs1980991765 CLINVAR
MedGen C0023976 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNE1 CLINVAR
OMIM 176261 CLINVAR
SNOMED CT 9651007 CLINVAR