RGD:12837814 Rat Genome Database

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Variant: RGD:12837814 -  Homo sapiens

RGD ID: 12837814
RS ID: rs369457896
ClinVar ID: CV378176
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 62,039,749
GRCh38 20 63,408,396
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009004.2:g.69245G>A
NC_000020.11:g.63408396C>T
NC_000020.10:g.62039749C>T
NM_172107.2:c.1887+17G>A
More... 		04/25/2022 intron variant benign|likely benign AllHighlyPenetrant; Benign Neonatal Epilepsy 1; Developmental and epileptic encephalopathy; Developmental and epileptic encephalopathy, 7; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 7; KCNQ2-Related Benign Familial Neonatal Epilepsy; KCNQ2-Related Neonatal Epileptic Encephalopathy; Ohtahara syndrome

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

Gene Symbol:KCNQ2
Accession:XM_047440144
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027841
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027845
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_001382235
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027844
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_004518
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172106
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172108
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172107
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027843
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_047440145
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027842
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172109
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000425817 CLINVAR
  RCV002058904 CLINVAR
  RCV002488880 CLINVAR
dbSNP (RS) rs369457896 CLINVAR
MedGen C0393706 CLINVAR
  C3149074 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNQ2 CLINVAR
OMIM 121200 CLINVAR
  602235 CLINVAR
  613720 CLINVAR
SNOMED CT 230429005 CLINVAR