RGD:12841717 Rat Genome Database

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Variant: RGD:12841717 -  Homo sapiens

RGD ID: 12841717
RS ID: rs772137862
ClinVar ID: CV371523
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 133,144,524
GRCh38 8 132,132,277
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001204824.2:c.1440-13C>T
NM_001204824.1:c.1440-13C>T
NM_004519.4:c.1800-13C>T
NG_008854.2:g.353481C>T
More... 		05/16/2016 intron variant likely benign AllHighlyPenetrant; Autosomal dominant form of benign neonatal seizures; Benign familial neonatal seizures; Benign neonatal familial convulsions; Convulsions benign familial neonatal dominant form
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNQ3
Accession:NM_001204824
Location:INTRON

Gene Symbol:KCNQ3
Accession:XM_011517026
Location:INTRON

Gene Symbol:KCNQ3
Accession:NM_004519
Location:INTRON

Gene Symbol:KCNQ3
Accession:XM_017013400
Location:INTRON

Gene Symbol:KCNQ3
Accession:XM_047421769
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000433067 CLINVAR
  RCV002062801 CLINVAR
dbSNP (RS) rs772137862 CLINVAR
MedGen C0220669 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNQ3 CLINVAR
OMIM 602232 CLINVAR
SNOMED CT 230410004 CLINVAR