RGD:12835118 Rat Genome Database

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Variant: RGD:12835118 -  Homo sapiens

RGD ID: 12835118
RS ID: rs200631855
ClinVar ID: CV378162
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA4  LOC126863087  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 61,987,778
GRCh38 20 63,356,426
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011931.1:g.9918C>T
NC_000020.11:g.63356426G>A
NC_000020.10:g.61987778G>A
NM_000744.5:c.229-11C>T
More... 		06/06/2016 intron variant likely benign AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNA4
Accession:NM_001256573
Location:5UTRS;INTRON

Gene Symbol:CHRNA4
Accession:NM_000744
Location:INTRON

Gene Symbol:CHRNA4
Accession:NR_046317
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000421136 CLINVAR
  RCV002521811 CLINVAR
dbSNP (RS) rs200631855 CLINVAR
MedGen C3696898 CLINVAR
  CN169374 CLINVAR
NCBI Gene CHRNA4 CLINVAR
  LOC126863087 CLINVAR
OMIM 118504 CLINVAR