RGD:25329671 Rat Genome Database

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Variant: RGD:25329671 -  Homo sapiens

RGD ID: 25329671
RS ID: rs1599928254
ClinVar ID: CV815740
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STK11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 1,221,945
GRCh38 19 1,221,946
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_319t1:c.863-3C>T
NM_000455.5:c.863-3C>T
LRG_319:g.37540C>T
NG_007460.2:g.37540C>T
More... 		12/01/2023 intron variant conflicting interpretations of pathogenicity|uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Lentiginosis, perioral; Neoplastic Syndromes, Hereditary; Periorificial lentiginosis syndrome; Peutz-Jeghers polyposis; Polyposis, hamartomatous intestinal; Polyps-and-spots syndrome; Tumor predisposition
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001018108 CLINVAR
  RCV001809918 CLINVAR
dbSNP (RS) rs1599928254 CLINVAR
MedGen C0027672 CLINVAR
  C0031269 CLINVAR
NCBI Gene STK11 CLINVAR
OMIM 175200 CLINVAR
  602216 CLINVAR
SNOMED CT 54411001 CLINVAR
  699346009 CLINVAR