RGD:10396206 Rat Genome Database

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Variant: RGD:10396206 -  Homo sapiens

RGD ID: 10396206
RS ID: rs572005014
ClinVar ID: CV203810
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 62,103,862
GRCh38 20 63,472,509
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000020.11:g.63472509G>C
NC_000020.10:g.62103862G>C
NG_009004.2:g.5132C>G
NM_172107.2:c.-46C>G
More... 		10/31/2014 5 prime utr variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KCNQ2
Accession:NM_172106
Location:5UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_172108
Location:5UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_047440145
Location:5UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_017027844
Location:5UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_017027841
Location:5UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_017027842
Location:5UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_047440144
Location:5UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_172109
Location:5UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_004518
Location:5UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_172107
Location:5UTRS;EXON

Gene Symbol:KCNQ2
Accession:NM_001382235
Location:5UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_011528811
Location:5UTRS;EXON

Gene Symbol:KCNQ2
Accession:XM_017027843
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027845
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000187842 CLINVAR
dbSNP (RS) rs572005014 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KCNQ2 CLINVAR
OMIM 602235 CLINVAR