RGD:11656833 Rat Genome Database

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Variant: RGD:11656833 -  Homo sapiens

RGD ID: 11656833
RS ID: rs886062688
ClinVar ID: CV313008
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: KCNQ3  
Reference Nucleotide: -
Variant Nucleotide: TGTT
Position
Assembly Chr Position
GRCh37 8 133,140,792
GRCh38 8 132,128,545
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.357212_357213insAACA
NM_004519.4:c.*716_*717insAACA
NC_000008.11:g.132128546_132128547insGTTT
NC_000008.10:g.133140793_133140794insGTTT
More... 		06/14/2016 3 prime utr variant uncertain significance 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:3UTRS;EXON

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000336825 CLINVAR
  RCV000407010 CLINVAR
dbSNP (RS) rs886062688 CLINVAR
MedGen C0220669 CLINVAR
  C0270851 CLINVAR
NCBI Gene KCNQ3 CLINVAR
OMIM 602232 CLINVAR
SNOMED CT 230410004 CLINVAR