RGD:8690519 Rat Genome Database

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Variant: RGD:8690519 -  Homo sapiens

RGD ID: 8690519
RS ID: rs80075498
ClinVar ID: CV140470
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AL121827.1  CHRNA4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 61,992,509
GRCh38 20 63,361,157
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.5187A>G
NC_000020.11:g.63361157T>C
NC_000020.10:g.61992509T>C
NM_000744.5:c.9A>G
More... 		02/18/2019 intron variant|non-coding transcript variant|synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters AllHighlyPenetrant; CIGARETTE HABITUATION, SUSCEPTIBILITY TO; Epilepsy, nocturnal frontal lobe, type 1; none provided; Tobacco addiction, susceptibility to

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

Gene Symbol:CHRNA4
Accession:NM_000744
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELGGPGAPRLLPPLLLLLGTGLLRASSHVETRAHAEERLLKKLFSGYNKWSRPVANISDVVLVRFGLSIAQLIDVDEKN
QMMTTNVWVKQEWHDYKLRWDPADYENVTSIRIPSELIWRPDIVLYNNADGDFAVTHLTKAHLFHDGRVQWTPPAIYKSS
CSIDVTFFPFDQQNCTMKFGSWTYDKAKIDLVNMHSRVDQLDFWESGEWVIVDAVGTYNTRKYECCAEIYPDITYAFVIR
RLPLFYTINLIIPCLLISCLTVLVFYLPSECGEKITLCISVLLSLTVFLLLITEIIPSTSLVIPLIGEYLLFTMIFVTLS
IVITVFVLNVHHRSPRTHTMPTWVRRVFLDIVPRLLLMKRPSVVKDNCRRLIESMHKMASAPRFWPEPEGEPPATSGTQS
LHPPSPSFCVPLDVPAEPGPSCKSPSDQLPPQQPLEAEKASPHPSPGPCRPPHGTQAPGLAKARSLSVQHMSSPGEAVEG
GVRCRSRSIQYCVPRDDAAPEADGQAAGALASRNTHSAELPPPDQPSPCKCTCKKEPSSVSPSATVKTRSTKAPPPHLPL
SPALTRAVEGVQYIADHLKAEDTDFSVKEDWKYVAMVIDRIFLWMFIIVCLLGTVGLFLPPWLAGMI*

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

Gene Symbol:AL121827.1
Accession:NR_110634
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000173023 CLINVAR
  RCV000470140 CLINVAR
  RCV002262717 CLINVAR
  RCV002312547 CLINVAR
  RCV002492453 CLINVAR
dbSNP (RS) rs80075498 CLINVAR
MedGen C0950123 CLINVAR
  C1838049 CLINVAR
  C3661900 CLINVAR
  C3696898 CLINVAR
  CN169374 CLINVAR
NCBI Gene 100130587 CLINVAR
  CHRNA4 CLINVAR
OMIM 118504 CLINVAR
  188890 CLINVAR
  600513 CLINVAR