RGD:11655415 Rat Genome Database

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Variant: RGD:11655415 -  Homo sapiens

RGD ID: 11655415
RS ID: rs886062851
ClinVar ID: CV308780
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 27,336,748
GRCh38 8 27,479,231
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000742.3:c.-544C>T
NG_015827.1:g.5066C>T
NC_000008.11:g.27479231G>A
NC_000008.10:g.27336748G>A
More... 		06/14/2016 5 prime utr 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_001347706
Location:5UTRS;EXON

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

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

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

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

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

Gene Symbol:CHRNA2
Accession:NM_000742
Location:5UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000325520 CLINVAR
dbSNP (RS) rs886062851 CLINVAR
MedGen C1835905 CLINVAR
NCBI Gene CHRNA2 CLINVAR
OMIM 118502 CLINVAR
  610353 CLINVAR