RGD:12895133 Rat Genome Database

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Variant: RGD:12895133 -  Homo sapiens

RGD ID: 12895133
RS ID: rs1064794063
ClinVar ID: CV410830
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 62,073,884
GRCh38 20 63,442,531
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_172107.4:c.691G>C
NM_172108.5:c.691G>C
NG_009004.2:g.35110G>C
NC_000020.11:g.63442531C>G
More... 		08/18/2015 missense variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNQ2
Accession:XM_017027841
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027843
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027842
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_011528811
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_047440144
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172108
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172107
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172106
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_001382235
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172109
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_047440145
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_004518
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027844
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027845
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000485355 CLINVAR
dbSNP (RS) rs1064794063 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KCNQ2 CLINVAR
OMIM 602235 CLINVAR