RGD:11645736 Rat Genome Database

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Variant: RGD:11645736 -  Homo sapiens

RGD ID: 11645736
RS ID: rs544071641
ClinVar ID: CV351619
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNE1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 35,819,543
GRCh38 21 34,447,245
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_290:g.69071C>T
NG_009091.1:g.69071C>T
NC_000021.9:g.34447245G>A
NC_000021.8:g.35819543G>A
More... 		06/14/2016 3 prime utr variant likely benign 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_001270405
Location:3UTRS;EXON

Gene Symbol:KCNE1
Accession:NM_001127670
Location:3UTRS;EXON

Gene Symbol:KCNE1
Accession:NM_001270402
Location:3UTRS;EXON

Gene Symbol:KCNE1
Accession:NM_001127669
Location:3UTRS;EXON

Gene Symbol:KCNE1
Accession:NM_000219
Location:3UTRS;EXON

Gene Symbol:KCNE1
Accession:NM_001270403
Location:3UTRS;EXON

Gene Symbol:KCNE1
Accession:XM_047440764
Location:3UTRS;EXON

Gene Symbol:KCNE1
Accession:NM_001127668
Location:3UTRS;EXON

Gene Symbol:KCNE1
Accession:NM_001270404
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000267179 CLINVAR
  RCV000306070 CLINVAR
  RCV000359582 CLINVAR
dbSNP (RS) rs544071641 CLINVAR
MedGen C1141890 CLINVAR
  C1867904 CLINVAR
  C2676723 CLINVAR
NCBI Gene KCNE1 CLINVAR
OMIM 176261 CLINVAR
  192500 CLINVAR
  612347 CLINVAR
  613695 CLINVAR
SNOMED CT 442917000 CLINVAR