RGD:8698408 Rat Genome Database

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Variant: RGD:8698408 -  Homo sapiens

RGD ID: 8698408
RS ID: rs187744790
ClinVar ID: CV152512
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130062899  STK11  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 1,223,131
GRCh38 19 1,223,132
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_319t1:c.1068C>G
LRG_319:g.38726C>G
NG_007460.2:g.38726C>G
NC_000019.10:g.1223132C>G
More... 		12/12/2023 missense 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_000455
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEVLDSETLCRRAVKIL
KKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQL
IDGLEYLHSQGIVHKDIKPGNLLLTTGGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
AGVTLYNITTGLYPFEGDNIYKLFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPV
PIPPSPDTKDRWRSMTVVPYLEDLHGADEDEDLFDMEDDIIYTQDFTVPGQVPEEEASHNGQRRGLPKAVCMNGTEAAQL
STKSRAEGRAPNPARKACSASSKIRRLSACKQQ*

Gene Symbol:STK11
Accession:NM_001407255
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEVLDSETLCRRAVKIL
KKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQL
IDGLEYLHSQGIVHKDIKPGNLLLTTGGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
AGVTLYNITTGLYPFEGDNIYKLFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPV
PIPPSPDTKDRWRSMTVVPYLEDLHGADEDEDLFDMEDDIIYTQDFTVPGGEEASEAGLRAERGLQKSEGSDLSGEEASR
PAPQ*

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000132217 CLINVAR
  RCV001043772 CLINVAR
dbSNP (RS) rs187744790 CLINVAR
MedGen C0027672 CLINVAR
  C0031269 CLINVAR
NCBI Gene LOC130062899 CLINVAR
  STK11 CLINVAR
OMIM 175200 CLINVAR
  602216 CLINVAR
SNOMED CT 54411001 CLINVAR
  699346009 CLINVAR