RGD:11651594 Rat Genome Database

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Variant: RGD:11651594 -  Homo sapiens

RGD ID: 11651594
RS ID: rs886048170
ClinVar ID: CV313817
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  KCNQ1-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 2,869,631
GRCh38 11 2,848,401
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_287t1:c.*398C>T
LRG_287t2:c.*398C>T
LRG_287:g.408411C>T
NG_008935.1:g.408411C>T
More... 		06/14/2016 3 prime utr variant uncertain significance Familial long QT syndrome; Familial short QT syndrome; Jervell-Lange Nielsen syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNQ1
Accession:NM_001406836
Location:3UTRS;EXON

Gene Symbol:KCNQ1
Accession:NM_000218
Location:3UTRS;EXON

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:3UTRS;EXON

Gene Symbol:KCNQ1
Accession:NM_001406837
Location:3UTRS;EXON

Gene Symbol:KCNQ1
Accession:NM_001406838
Location:3UTRS;EXON

Gene Symbol:KCNQ1
Accession:NM_181798
Location:3UTRS;EXON

Gene Symbol:KCNQ1-AS1
Accession:NR_130721
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000300037 CLINVAR
  RCV000313034 CLINVAR
  RCV000338558 CLINVAR
  RCV000397713 CLINVAR
  RCV000403422 CLINVAR
dbSNP (RS) rs886048170 CLINVAR
MedGen C0022387 CLINVAR
  C0023976 CLINVAR
  C1141890 CLINVAR
  C2348199 CLINVAR
  C3468561 CLINVAR
NCBI Gene KCNQ1 CLINVAR
  KCNQ1-AS1 CLINVAR
OMIM 192500 CLINVAR
  607542 CLINVAR
SNOMED CT 373905003 CLINVAR
  442917000 CLINVAR
  9651007 CLINVAR