RGD:156441813 Rat Genome Database

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Variant: RGD:156441813 -  Homo sapiens

RGD ID: 156441813
ClinVar ID: CV1941461
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 133,150,119
GRCh38 8 132,137,872
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.1340+13C>T
NM_004519.4:c.1700+13C>T
NG_008854.2:g.347886C>T
NC_000008.11:g.132137872G>A
More... 		10/13/2022 intron variant likely benign 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_004519
Location:INTRON

Gene Symbol:KCNQ3
Accession:NM_001204824
Location:INTRON

Gene Symbol:KCNQ3
Accession:XM_011517026
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 RCV003112146 CLINVAR
MedGen C0220669 CLINVAR
NCBI Gene KCNQ3 CLINVAR
OMIM 602232 CLINVAR
SNOMED CT 230410004 CLINVAR