RGD:10396222 Rat Genome Database

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Variant: RGD:10396222 -  Homo sapiens

RGD ID: 10396222
RS ID: rs757608181
ClinVar ID: CV203730
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 62,044,933
GRCh38 20 63,413,580
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.63413580C>T
NP_742105.1:p.Val545Ile
NG_009004.2:g.64061G>A
NM_172107.2:c.1633G>A
More... 		08/28/2019 missense variant uncertain significance 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_172106
Location:EXON

Gene Symbol:KCNQ2
Accession:NM_172107
Location:EXON

Gene Symbol:KCNQ2
Accession:XM_017027841
Location:EXON

Gene Symbol:KCNQ2
Accession:XM_017027844
Location:EXON

Gene Symbol:KCNQ2
Accession:XM_011528811
Location:EXON

Gene Symbol:KCNQ2
Accession:XM_047440144
Location:EXON

Gene Symbol:KCNQ2
Accession:NM_001382235
Location:EXON

Gene Symbol:KCNQ2
Accession:XM_017027845
Location:EXON

Gene Symbol:KCNQ2
Accession:XM_017027843
Location:EXON

Gene Symbol:KCNQ2
Accession:XM_017027842
Location:EXON

Gene Symbol:KCNQ2
Accession:NM_172108
Location:EXON

Gene Symbol:KCNQ2
Accession:NM_004518
Location:EXON

Gene Symbol:KCNQ2
Accession:XM_047440145
Location:EXON

Gene Symbol:KCNQ2
Accession:NM_172109
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000187910 CLINVAR
  RCV001209374 CLINVAR
dbSNP (RS) rs757608181 CLINVAR
MedGen C0393706 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNQ2 CLINVAR
OMIM 602235 CLINVAR
SNOMED CT 230429005 CLINVAR