RGD:38462362 Rat Genome Database

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Variant: RGD:38462362 -  Homo sapiens

RGD ID: 38462362
RS ID: rs542842233
ClinVar ID: CV961008
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNE3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 74,168,368
GRCh38 11 74,457,323
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_439t1:c.241C>T
NM_005472.5:c.241C>T
LRG_439:g.15233C>T
NG_011833.1:g.15233C>T
More...
02/13/2020 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:KCNE3
Accession:NM_005472
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
CSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_011544713
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHRVAALGPPSVRGRRVQRANGRPGALLRGRASTESSPTSIPVAMETTNGTETWYESLHAVLKALNATLHSNLLCRPGPG
LGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYTCSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_017017048
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
CSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_017017047
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
CSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_017017051
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
CSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_017017049
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
CSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_047426177
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
CSRKVDKRSDPYHVYIKNRVSMI*

Gene Symbol:KCNE3
Accession:XM_047426176
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYT
CSRKVDKRSDPYHVYIKNRVSMI*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001248783 CLINVAR
  RCV001303992 CLINVAR
  RCV002447233 CLINVAR
dbSNP (RS) rs542842233 CLINVAR
MedGen C0151878 CLINVAR
  C2751089 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNE3 CLINVAR
OMIM 604433 CLINVAR
  613119 CLINVAR