RGD:11623372 Rat Genome Database

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Variant: RGD:11623372 -  Homo sapiens

RGD ID: 11623372
RS ID: rs147615524
ClinVar ID: CV332545
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130062895  STK11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 1,205,889
GRCh38 19 1,205,890
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_319t1:c.-1024C>T
LRG_319:g.21484C>T
NG_007460.2:g.21484C>T
NC_000019.10:g.1205890C>T
More... 		07/26/2019 5 prime utr variant benign|likely benign adolescent 1-9 / 100 000 Lentiginosis, perioral; none provided; 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_000455
Location:5UTRS;EXON

Gene Symbol:STK11
Accession:NM_001407255
Location:5UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000371780 CLINVAR
  RCV001594959 CLINVAR
dbSNP (RS) rs147615524 CLINVAR
MedGen C0031269 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC130062895 CLINVAR
  STK11 CLINVAR
OMIM 175200 CLINVAR
  602216 CLINVAR
SNOMED CT 54411001 CLINVAR