RGD:13614246 Rat Genome Database

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Variant: RGD:13614246 -  Homo sapiens

RGD ID: 13614246
RS ID: rs1057521237
ClinVar ID: CV533824
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNE1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 35,821,744
GRCh38 21 34,449,446
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_290:g.66870G>T
NP_001121142.1:p.Leu63=
NP_000210.2:p.Leu63=
NM_001270403.2:c.189G>T
More...
10/26/2017 synonymous variant likely benign
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 L (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001127669
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001127668
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001127670
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270404
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270402
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270403
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:NM_001270405
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Gene Symbol:KCNE1
Accession:XM_047440764
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRMILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDP
FNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000631826 CLINVAR
dbSNP (RS) rs1057521237 CLINVAR
MedGen C0023976 CLINVAR
NCBI Gene KCNE1 CLINVAR
OMIM 176261 CLINVAR
SNOMED CT 9651007 CLINVAR