rs1826416962 Rat Genome Database

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Variant: rs1826416962 -  Homo sapiens

RGD ID: 26918519
RS ID: rs1826416962
ClinVar ID: CV852112
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 133,184,941
GRCh38 8 132,172,694
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.685-1G>T
NM_004519.4:c.1045-1G>T
NG_008854.2:g.313064G>T
NC_000008.11:g.132172694C>A
More...
09/28/2020 splice acceptor variant likely pathogenic|uncertain significance Autosomal dominant form of benign neonatal seizures; Benign familial neonatal epilepsy; 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_047421769
Location:INTRON

Gene Symbol:KCNQ3
Accession:NM_004519
Location:INTRON

Gene Symbol:KCNQ3
Accession:XM_011517026
Location:INTRON

Gene Symbol:KCNQ3
Accession:XM_017013400
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:28492532   PMID:29383681   PMID:29852413  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001058007 CLINVAR
dbSNP (RS) rs1826416962 CLINVAR
MedGen C0220669 CLINVAR
NCBI Gene KCNQ3 CLINVAR
OMIM 602232 CLINVAR
SNOMED CT 230410004 CLINVAR