RGD:28909601 Rat Genome Database

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Variant: RGD:28909601 -  Homo sapiens

RGD ID: 28909601
RS ID: rs1848376672
ClinVar ID: CV867807
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  KCNQ1-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 2,869,358
GRCh38 11 2,848,128
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_181798.1:c.*125C>T
LRG_287t1:c.*125C>T
LRG_287t2:c.*125C>T
NM_000218.3:c.*125C>T
More... 		01/13/2018 3 prime utr variant uncertain significance Cardioauditory syndrome of Jervell and Lange-Nielsen; Deafness, congenital, and functional heart disease; Prolonged QT interval in EKG and sudden death; Surdo-cardiac syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNQ1
Accession:NM_000218
Location:3UTRS;EXON

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

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

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

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

Gene Symbol:KCNQ1
Accession:NM_001406836
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001108488 CLINVAR
  RCV001108489 CLINVAR
  RCV001108490 CLINVAR
  RCV001108491 CLINVAR
dbSNP (RS) rs1848376672 CLINVAR
MedGen C1837014 CLINVAR
  C1865019 CLINVAR
  C4551509 CLINVAR
  C4551647 CLINVAR
NCBI Gene KCNQ1 CLINVAR
  KCNQ1-AS1 CLINVAR
OMIM 192500 CLINVAR
  220400 CLINVAR
  607542 CLINVAR
  607554 CLINVAR
  609621 CLINVAR