RGD:8686735 Rat Genome Database

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Variant: RGD:8686735 -  Homo sapiens

RGD ID: 8686735
RS ID: rs199473647
ClinVar ID: CV136428
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNE1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 35,821,554
GRCh38 21 34,449,256
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_290t1:c.379C>A
LRG_290:g.67060C>A
NG_009091.1:g.67060C>A
NC_000021.9:g.34449256G>T
More... 		missense variant pathogenic|not provided Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNE1
Accession:NM_001127668
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKTSP*

Gene Symbol:KCNE1
Accession:NM_001270403
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKTSP*

Gene Symbol:KCNE1
Accession:XM_047440764
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRMILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDP
FNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKTSP*

Gene Symbol:KCNE1
Accession:NM_000219
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKTSP*

Gene Symbol:KCNE1
Accession:NM_001127669
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKTSP*

Gene Symbol:KCNE1
Accession:NM_001270402
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKTSP*

Gene Symbol:KCNE1
Accession:NM_001270405
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKTSP*

Gene Symbol:KCNE1
Accession:NM_001127670
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKTSP*

Gene Symbol:KCNE1
Accession:NM_001270404
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNV
YIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKTSP*
Variant Samples
Additional References at PubMed
PMID:10973849   PMID:15051636   PMID:22581653  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000119092 CLINVAR
dbSNP (RS) rs199473647 CLINVAR
MedGen C1141890 CLINVAR
NCBI Gene KCNE1 CLINVAR
OMIM 176261 CLINVAR
  192500 CLINVAR
SNOMED CT 442917000 CLINVAR