RGD:8597016 Rat Genome Database

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Variant: RGD:8597016 -  Homo sapiens

RGD ID: 8597016
RS ID: rs16991654
ClinVar ID: CV21095
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNE2  LOC105372791  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 35,742,955
GRCh38 21 34,370,656
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_291t1:c.178T>C
LRG_291:g.11633T>C
NG_008804.1:g.11633T>C
NC_000021.9:g.34370656T>C
More... 		01/14/2011 missense|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:KCNE2
Accession:NM_172201
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTLSNFTQTLEDVFRRIFITYMDNWRQNTTAEQEALQAKVDAENFYYVILYLMVMIGMLSFIIVAILVSTVKSKRREHS
NDPYHQYIVEDWQEKYKSQILNLEESKATIHENIGAAGFKMSP*

Gene Symbol:
Accession:
Location:EXON;NON-CODING

Gene Symbol:LOC105372791
Accession:NR_188571
Location:EXON;NON-CODING

Gene Symbol:
Accession:
Location:EXON;NON-CODING

Gene Symbol:LOC105372791
Accession:NR_188572
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:16922724   PMID:22581653  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000006428 CLINVAR
  RCV000058363 CLINVAR
dbSNP (RS) rs16991654 CLINVAR
MedGen C1141890 CLINVAR
  C3276241 CLINVAR
NCBI Gene KCNE2 CLINVAR
  LOC105372791 CLINVAR
OMIM 192500 CLINVAR
  603796 CLINVAR
OMIM Allele 603796.0005 CLINVAR
SNOMED CT 442917000 CLINVAR