RGD:8690506 Rat Genome Database

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Variant: RGD:8690506 -  Homo sapiens

RGD ID: 8690506
RS ID: rs12114756
ClinVar ID: CV140457
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 27,328,620
GRCh38 8 27,471,103
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.13194C>A
NC_000008.11:g.27471103G>T
NC_000008.10:g.27328620G>T
NM_000742.4:c.-45C>A
More... 		06/14/2016 5 prime utr variant benign|likely benign AllHighlyPenetrant; 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:XM_047421312
Location:5UTRS;EXON

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

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

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

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

Gene Symbol:CHRNA2
Accession:NM_001282455
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_001347707
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000124279 CLINVAR
  RCV000394527 CLINVAR
dbSNP (RS) rs12114756 CLINVAR
MedGen C1835905 CLINVAR
  CN169374 CLINVAR
NCBI Gene CHRNA2 CLINVAR
OMIM 118502 CLINVAR
  610353 CLINVAR