rs886062669 Rat Genome Database

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Variant: rs886062669 -  Homo sapiens

RGD ID: 11659860
RS ID: rs886062669
ClinVar ID: CV312915
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 133,137,030
GRCh38 8 132,124,783
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004519.4:c.*4479C>T
NG_008854.2:g.360975C>T
NC_000008.11:g.132124783G>A
NC_000008.10:g.133137030G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Benign Neonatal Epilepsy 2; CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2; KCNQ3-Related Benign Familial Neonatal Epilepsy; Seizures, benign neonatal, 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNQ3
Accession:XM_017013400
Location:3UTRS;EXON

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000361831 CLINVAR
  RCV000402789 CLINVAR
dbSNP (RS) rs886062669 CLINVAR
MedGen C0270851 CLINVAR
  C1852581 CLINVAR
NCBI Gene KCNQ3 CLINVAR
OMIM 121201 CLINVAR
  602232 CLINVAR