RGD:8697425 Rat Genome Database

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Variant: RGD:8697425 -  Homo sapiens

RGD ID: 8697425
RS ID: rs587782032
ClinVar ID: CV151529
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STK11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 1,220,466
GRCh38 19 1,220,467
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.559G>A
LRG_319:g.36061G>A
NG_007460.2:g.36061G>A
NC_000019.10:g.1220467G>A
More... 		11/27/2019 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance adolescent|childhood 1-9 / 100 000 AllHighlyPenetrant; Cancer breast; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Lentiginosis, perioral; Malignant breast neoplasm; Neoplastic Syndromes, Hereditary; none provided; Periorificial lentiginosis syndrome; Peutz-Jeghers polyposis; Polyposis, hamartomatous intestinal; Polyps-and-spots syndrome; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

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: G to S (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEVLDSETLCRRAVKIL
KKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQL
IDGLEYLHSQGIVHKDIKPGNLLLTTSGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
AGVTLYNITTGLYPFEGDNIYKLFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPV
PIPPSPDTKDRWRSMTVVPYLEDLHGADEDEDLFDIEDDIIYTQDFTVPGQVPEEEASHNGQRRGLPKAVCMNGTEAAQL
STKSRAEGRAPNPARKACSASSKIRRLSACKQQ*

Gene Symbol:STK11
Accession:NM_001407255
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEVLDSETLCRRAVKIL
KKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQL
IDGLEYLHSQGIVHKDIKPGNLLLTTSGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
AGVTLYNITTGLYPFEGDNIYKLFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPV
PIPPSPDTKDRWRSMTVVPYLEDLHGADEDEDLFDIEDDIIYTQDFTVPGGEEASEAGLRAERGLQKSEGSDLSGEEASR
PAPQ*

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

Variant Samples
Additional References at PubMed
PMID:20082862   PMID:25452441   PMID:25741868   PMID:26467025   PMID:28492532   PMID:30287823   PMID:33471991  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000130480 CLINVAR
  RCV000198594 CLINVAR
  RCV000590446 CLINVAR
  RCV000855607 CLINVAR
  RCV001358086 CLINVAR
  RCV003492602 CLINVAR
dbSNP (RS) rs587782032 CLINVAR
MedGen C0006142 CLINVAR
  C0027672 CLINVAR
  C0031269 CLINVAR
  C1333600 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene STK11 CLINVAR
OMIM 175200 CLINVAR
  602216 CLINVAR
SNOMED CT 254837009 CLINVAR
  54411001 CLINVAR
  699346009 CLINVAR