RGD:11651365 Rat Genome Database

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Variant: RGD:11651365 -  Homo sapiens

RGD ID: 11651365
RS ID: rs886062848
ClinVar ID: CV308777
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 27,336,330
GRCh38 8 27,478,813
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_015827.1:g.5484T>C
NC_000008.11:g.27478813A>G
NC_000008.10:g.27336330A>G
NM_001282455.2:c.-137+11T>C
More... 		06/14/2016 intron variant uncertain significance EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR; Epilepsy, nocturnal frontal lobe, type 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNA2
Accession:NM_000742
Location:5UTRS;INTRON

Gene Symbol:CHRNA2
Accession:NM_001282455
Location:5UTRS;INTRON

Gene Symbol:CHRNA2
Accession:NM_001347705
Location:5UTRS;INTRON

Gene Symbol:CHRNA2
Accession:NM_001347708
Location:5UTRS;INTRON

Gene Symbol:CHRNA2
Accession:XM_047421313
Location:5UTRS;INTRON

Gene Symbol:CHRNA2
Accession:XM_047421311
Location:5UTRS;INTRON

Gene Symbol:CHRNA2
Accession:XM_047421312
Location:5UTRS;INTRON

Gene Symbol:CHRNA2
Accession:NM_001347706
Location:5UTRS;INTRON

Gene Symbol:CHRNA2
Accession:NM_001347707
Location:5UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000298407 CLINVAR
dbSNP (RS) rs886062848 CLINVAR
MedGen C1835905 CLINVAR
NCBI Gene CHRNA2 CLINVAR
OMIM 118502 CLINVAR
  610353 CLINVAR