RGD:10404330 Rat Genome Database

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Variant: RGD:10404330 -  Homo sapiens

RGD ID: 10404330
RS ID: rs371784719
ClinVar ID: CV208707
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 62,076,726
GRCh38 20 63,445,373
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.63445373G>C
NC_000020.10:g.62076726G>C
NG_009004.2:g.32268C>G
NM_172107.2:c.388-9C>G
More... 		10/07/2019 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; none provided; Ohtahara syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNQ2
Accession:NM_004518
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_047440145
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172108
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_172106
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_011528811
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_047440144
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027842
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027841
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027843
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172107
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_001382235
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000194809 CLINVAR
  RCV001711606 CLINVAR
  RCV002054268 CLINVAR
dbSNP (RS) rs371784719 CLINVAR
MedGen C0393706 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNQ2 CLINVAR
OMIM 602235 CLINVAR
SNOMED CT 230429005 CLINVAR