RGD:8697809 Rat Genome Database

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Variant: RGD:8697809 -  Homo sapiens

RGD ID: 8697809
RS ID: rs587782302
ClinVar ID: CV151912
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130062899  STK11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 1,223,075
GRCh38 19 1,223,076
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.1012G>A
LRG_319:g.38670G>A
NG_007460.2:g.38670G>A
NC_000019.10:g.1223076G>A
More... 		01/19/2022 missense variant conflicting interpretations of pathogenicity|uncertain significance adolescence / young adulthood|adolescent|childhood 1-9 / 100 000 Adenomas, multiple colorectal; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; Cancer of the testes; Cancer predisposition; COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; Exocrine pancreatic carcinoma; FAP type 2; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Lentiginosis, perioral; Malignant tumor of testis; MUTYH-associated polyposis; MUTYH-related attenuated familial adenomatous polyposis; MYH-associated polyposis; Neoplastic Syndromes, Hereditary; none provided; PANCREATIC ACINAR CARCINOMA; Pancreatic cancer, somatic; PANCREATIC CARCINOMA; Pancreatic carcinoma, somatic; Periorificial lentiginosis syndrome; Peutz-Jeghers polyposis; Peutz-Jeghers syndrome; Polyposis, hamartomatous intestinal; Polyps-and-spots syndrome; Testicular cancer; Tumor predisposition
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:STK11
Accession:NM_000455
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEVLDSETLCRRAVKIL
KKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQL
IDGLEYLHSQGIVHKDIKPGNLLLTTGGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
AGVTLYNITTGLYPFEGDNIYKLFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPV
PIPPSPDTKDRWRSMTVMPYLEDLHGADEDEDLFDIEDDIIYTQDFTVPGQVPEEEASHNGQRRGLPKAVCMNGTEAAQL
STKSRAEGRAPNPARKACSASSKIRRLSACKQQ*

Gene Symbol:STK11
Accession:NM_001407255
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEVLDSETLCRRAVKIL
KKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQL
IDGLEYLHSQGIVHKDIKPGNLLLTTGGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
AGVTLYNITTGLYPFEGDNIYKLFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPV
PIPPSPDTKDRWRSMTVMPYLEDLHGADEDEDLFDIEDDIIYTQDFTVPGGEEASEAGLRAERGLQKSEGSDLSGEEASR
PAPQ*

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28135145   PMID:28492532   PMID:33471991  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000131186 CLINVAR
  RCV000168376 CLINVAR
  RCV000222337 CLINVAR
  RCV000765433 CLINVAR
  RCV001354464 CLINVAR
  RCV002243796 CLINVAR
  RCV003407552 CLINVAR
dbSNP (RS) rs587782302 CLINVAR
MedGen C0027672 CLINVAR
  C0031269 CLINVAR
  C0235974 CLINVAR
  C1868081 CLINVAR
  C3272841 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC130062899 CLINVAR
  STK11 CLINVAR
OMIM 175200 CLINVAR
  260350 CLINVAR
  602216 CLINVAR
  608456 CLINVAR
SNOMED CT 372142002 CLINVAR
  54411001 CLINVAR
  699346009 CLINVAR