RGD:11598392 Rat Genome Database

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Variant: RGD:11598392 -  Homo sapiens

RGD ID: 11598392
RS ID: rs763946605
ClinVar ID: CV304182
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 133,135,049
GRCh38 8 132,122,802
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008854.2:g.362956C>T
NC_000008.11:g.132122802G>A
NC_000008.10:g.133135049G>A
NM_004519.3:c.*6460C>T
More... 		03/17/2021 3 prime utr variant uncertain significance Benign Neonatal Epilepsy 2; CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2; KCNQ3-Related Benign Familial Neonatal Epilepsy; KCNQ3-related Disorders; Seizures, benign neonatal, 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNQ3
Accession:XM_017013400
Location:3UTRS;EXON

Gene Symbol:KCNQ3
Accession:NM_001204824
Location:3UTRS;EXON

Gene Symbol:KCNQ3
Accession:XM_011517026
Location:3UTRS;EXON

Gene Symbol:KCNQ3
Accession:XM_047421769
Location:3UTRS;EXON

Gene Symbol:KCNQ3
Accession:NM_004519
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000337810 CLINVAR
  RCV000404866 CLINVAR
dbSNP (RS) rs763946605 CLINVAR
MedGen C0270851 CLINVAR
  C1852581 CLINVAR
NCBI Gene KCNQ3 CLINVAR
OMIM 121201 CLINVAR
  602232 CLINVAR