RGD:8601448 Rat Genome Database

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Variant: RGD:8601448 -  Homo sapiens

RGD ID: 8601448
RS ID: rs118192221
ClinVar ID: CV34668
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 62,062,691
GRCh38 20 63,431,338
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000020.11:g.63431338A>C
NC_000020.10:g.62062691A>C
NG_009004.2:g.46303T>G
NM_172107.2:c.1148+2T>G
More... 		03/31/2016 intron|intron variant|splice donor variant pathogenic|not provided neonatal/infancy <1 / 1 000 000 Benign Neonatal Epilepsy 1; KCNQ2-Related Benign Familial Neonatal Epilepsy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNQ2
Accession:XM_011528811
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027843
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172107
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_047440145
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172109
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027844
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027845
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_001382235
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_004518
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172108
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172106
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027841
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027842
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_047440144
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10774989  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000678104 CLINVAR
dbSNP (RS) rs118192221 CLINVAR
MedGen C3149074 CLINVAR
NCBI Gene KCNQ2 CLINVAR
OMIM 121200 CLINVAR
  602235 CLINVAR