RGD:155731762 Rat Genome Database

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Variant: RGD:155731762 -  Homo sapiens

RGD ID: 155731762
ClinVar ID: CV1833861
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNE3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 74,168,505
GRCh38 11 74,457,460
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_439t1:c.104C>T
NM_005472.5:c.104C>T
LRG_439:g.15096C>T
NG_011833.1:g.15096C>T
More...
12/06/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNE3
Accession:XM_017017047
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGLGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_017017048
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGLGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_047426177
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGLGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_047426176
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGLGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:NM_005472
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGLGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_011544713
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHRVAALGPPSVRGRRVQRANGRPGALLRGRASTESSPTSIPVAMETTNGTETWYESLHAVLKALNATLHSNLLCRPGLG
LGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYTRSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_017017049
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGLGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_017017051
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGLGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
RSRKVDKRSDPYHVYIKNRVSMI*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002401050 CLINVAR
  RCV003505263 CLINVAR
MedGen C2751089 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNE3 CLINVAR
OMIM 604433 CLINVAR
  613119 CLINVAR