RGD:243053494 Rat Genome Database

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Variant: RGD:243053494 -  Homo sapiens

RGD ID: 243053494
ClinVar ID: CV2404618
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 78,910,945
GRCh38 15 78,618,603
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166694.2:c.267+14C>T
NM_000743.5:c.267+14C>T
NC_000015.10:g.78618603G>A
NC_000015.9:g.78910945G>A
More... 		06/06/2022 intron variant uncertain significance Epidermoid carcinoma
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CHRNA3
Accession:XM_006720382
Location:INTRON

Gene Symbol:CHRNA3
Accession:NM_001166694
Location:INTRON

Gene Symbol:CHRNA3
Accession:NM_000743
Location:INTRON

Gene Symbol:CHRNA3
Accession:NR_046313
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:27993330  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003129645 CLINVAR
MedGen C0007137 CLINVAR
NCBI Gene CHRNA3 CLINVAR
OMIM 118503 CLINVAR
SNOMED CT 28899001 CLINVAR