rs2080765141 Rat Genome Database

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Variant: rs2080765141 -  Homo sapiens

RGD ID: 26914890
RS ID: rs2080765141
ClinVar ID: CV852852
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STK11  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 1,219,321
GRCh38 19 1,219,322
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_319t1:c.375-2A>G
NM_000455.5:c.375-2A>G
LRG_319:g.34916A>G
NG_007460.2:g.34916A>G
More... 		12/31/2019 splice acceptor variant uncertain significance Lentiginosis, perioral; Periorificial lentiginosis syndrome; Peutz-Jeghers polyposis; Polyposis, hamartomatous intestinal; Polyps-and-spots syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STK11
Accession:NM_001407255
Location:INTRON

Gene Symbol:STK11
Accession:NM_000455
Location:INTRON

Gene Symbol:STK11
Accession:NR_176325
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:15188174   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001055291 CLINVAR
dbSNP (RS) rs2080765141 CLINVAR
MedGen C0031269 CLINVAR
NCBI Gene STK11 CLINVAR
OMIM 175200 CLINVAR
  602216 CLINVAR
SNOMED CT 54411001 CLINVAR