RGD:25323112 Rat Genome Database

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Variant: RGD:25323112 -  Homo sapiens

RGD ID: 25323112
RS ID: rs1330230723
ClinVar ID: CV814913
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STK11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 1,226,560
GRCh38 19 1,226,561
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.1226561G>A
NC_000019.9:g.1226560G>A
NM_000455.4:c.1216G>A
NP_000446.1:p.Ala406Thr
More... 		11/24/2021 missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Lentiginosis, perioral; 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


Variant Details
Variant Transcripts
Gene Symbol:STK11
Accession:NM_000455
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEVLDSETLCRRAVKIL
KKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQL
IDGLEYLHSQGIVHKDIKPGNLLLTTGGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
AGVTLYNITTGLYPFEGDNIYKLFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPV
PIPPSPDTKDRWRSMTVVPYLEDLHGADEDEDLFDIEDDIIYTQDFTVPGQVPEEEASHNGQRRGLPKAVCMNGTEAAQL
STKSRTEGRAPNPARKACSASSKIRRLSACKQQ*

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

Gene Symbol:STK11
Accession:NM_001407255
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001010372 CLINVAR
  RCV001860634 CLINVAR
  RCV003319430 CLINVAR
dbSNP (RS) rs1330230723 CLINVAR
MedGen C0027672 CLINVAR
  C0031269 CLINVAR
  C3661900 CLINVAR
NCBI Gene STK11 CLINVAR
OMIM 175200 CLINVAR
  602216 CLINVAR
SNOMED CT 54411001 CLINVAR
  699346009 CLINVAR