RGD:401829136 Rat Genome Database

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Variant: RGD:401829136 -  Homo sapiens

RGD ID: 401829136
ClinVar ID: CV2743651
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  KCNQ1OT1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 2,720,899
GRCh38 11 2,699,669
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008935.1:g.259679G>C
NR_002728.3:n.330C>G
LRG_1052:g.5330C>G
NR_002728.4:n.326C>G
More... 		08/01/2023 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNQ1OT1
Accession:NR_002728
Location:EXON;NON-CODING

Gene Symbol:KCNQ1
Accession:NM_000218
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_181798
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406837
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406836
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406838
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003326827 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KCNQ1 CLINVAR
  KCNQ1OT1 CLINVAR
OMIM 604115 CLINVAR
  607542 CLINVAR