RGD:243055982 Rat Genome Database

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Variant: RGD:243055982 -  Homo sapiens

RGD ID: 243055982
ClinVar ID: CV2404668
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA3  CHRNA5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 78,886,147
GRCh38 15 78,593,805
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001307945.2:c.*689T>C
NM_001395171.1:c.*689T>C
NM_001395173.1:c.*689T>C
NM_001395174.1:c.*689T>C
More... 		06/06/2022 3 prime utr variant uncertain significance Adenocarcinoma of lung; Adenocarcinoma of lung, somatic
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CHRNA5
Accession:NM_001395175
Location:3UTRS;EXON

Gene Symbol:CHRNA5
Accession:NM_001395174
Location:3UTRS;EXON

Gene Symbol:CHRNA5
Accession:NM_000745
Location:3UTRS;EXON

Gene Symbol:CHRNA5
Accession:NM_001395171
Location:3UTRS;EXON

Gene Symbol:CHRNA5
Accession:NM_001307945
Location:3UTRS;EXON

Gene Symbol:CHRNA5
Accession:NM_001395172
Location:3UTRS;EXON

Gene Symbol:CHRNA5
Accession:NM_001395173
Location:3UTRS;EXON

Gene Symbol:CHRNA3
Accession:NM_000743
Location:INTRON

Gene Symbol:CHRNA3
Accession:XM_006720382
Location:INTRON

Gene Symbol:CHRNA3
Accession:NM_001166694
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 RCV003129695 CLINVAR
MedGen C0152013 CLINVAR
NCBI Gene CHRNA3 CLINVAR
  CHRNA5 CLINVAR
OMIM 118503 CLINVAR
  118505 CLINVAR