RGD:11607183 Rat Genome Database

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Variant: RGD:11607183 -  Homo sapiens

RGD ID: 11607183
RS ID: rs977939
ClinVar ID: CV312980
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 133,139,755
GRCh38 8 132,127,508
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.358250C>T
NC_000008.11:g.132127508G>A
NC_000008.10:g.133139755G>A
NM_004519.4:c.*1754C>T
More... 		06/14/2016 3 prime utr variant benign Autosomal dominant form of benign neonatal seizures; Benign familial neonatal seizures; Benign Neonatal Epilepsy 2; Benign neonatal familial convulsions; Convulsions benign familial neonatal dominant form; 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_011517026
Location:3UTRS;EXON

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

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

Gene Symbol:KCNQ3
Accession:XM_017013400
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000340516 CLINVAR
  RCV000391929 CLINVAR
dbSNP (RS) rs977939 CLINVAR
MedGen C0220669 CLINVAR
  C1852581 CLINVAR
NCBI Gene KCNQ3 CLINVAR
OMIM 121201 CLINVAR
  602232 CLINVAR
SNOMED CT 230410004 CLINVAR