RGD:28909957 Rat Genome Database

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Variant: RGD:28909957 -  Homo sapiens

RGD ID: 28909957
RS ID: rs1451704235
ClinVar ID: CV899387
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 27,317,377
GRCh38 8 27,459,860
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000742.4:c.*1769C>G
NM_001282455.2:c.*1769C>G
NM_001347705.2:c.*1769C>G
NM_001347706.2:c.*1769C>G
More... 		01/13/2018 3 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:3UTRS;EXON

Gene Symbol:CHRNA2
Accession:XM_047421312
Location:3UTRS;EXON

Gene Symbol:CHRNA2
Accession:NM_001347707
Location:3UTRS;EXON

Gene Symbol:CHRNA2
Accession:NM_000742
Location:3UTRS;EXON

Gene Symbol:CHRNA2
Accession:NM_001347708
Location:3UTRS;EXON

Gene Symbol:CHRNA2
Accession:XM_047421313
Location:3UTRS;EXON

Gene Symbol:CHRNA2
Accession:XM_047421311
Location:3UTRS;EXON

Gene Symbol:CHRNA2
Accession:NM_001347705
Location:3UTRS;EXON

Gene Symbol:CHRNA2
Accession:NM_001282455
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001161007 CLINVAR
dbSNP (RS) rs1451704235 CLINVAR
MedGen C1835905 CLINVAR
NCBI Gene CHRNA2 CLINVAR
OMIM 118502 CLINVAR
  610353 CLINVAR