RGD:21069755 Rat Genome Database

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Variant: RGD:21069755 -  Homo sapiens

RGD ID: 21069755
RS ID: rs1048449968
ClinVar ID: CV789376
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  KCNQ1OT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 2,686,601
GRCh38 11 2,665,371
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.9:g.2686601A>G
LRG_287t1:c.1514+3290A>G
NM_000218.2:c.1514+3290A>G
NM_000218.3:c.1514+3290A>G
More... 		08/25/2019 intron variant uncertain significance

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 RCV000985027 CLINVAR
dbSNP (RS) rs1048449968 CLINVAR
NCBI Gene KCNQ1 CLINVAR
  KCNQ1OT1 CLINVAR
OMIM 604115 CLINVAR
  607542 CLINVAR