rs370207155 Rat Genome Database

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Variant: rs370207155 -  Homo sapiens

RGD ID: 8689700
RS ID: rs370207155
ClinVar ID: CV139627
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STK11  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 1,226,529
GRCh38 19 1,226,530
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.1185A>G
LRG_319:g.42124A>G
NG_007460.2:g.42124A>G
NC_000019.9:g.1226529A>G
More... 		12/01/2023 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters adolescence / young adulthood|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: T to T (synonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEVLDSETLCRRAVKIL
KKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQL
IDGLEYLHSQGIVHKDIKPGNLLLTTGGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
AGVTLYNITTGLYPFEGDNIYKLFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPV
PIPPSPDTKDRWRSMTVVPYLEDLHGADEDEDLFDIEDDIIYTQDFTVPGQVPEEEASHNGQRRGLPKAVCMNGTEAAQL
STKSRAEGRAPNPARKACSASSKIRRLSACKQQ*

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:17026623   PMID:20722467   PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000123054 CLINVAR
  RCV000128303 CLINVAR
  RCV000213032 CLINVAR
  RCV000586467 CLINVAR
  RCV001357027 CLINVAR
  RCV001798402 CLINVAR
dbSNP (RS) rs370207155 CLINVAR
MedGen C0006142 CLINVAR
  C0027672 CLINVAR
  C0031269 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN221562 CLINVAR
NCBI Gene STK11 CLINVAR
OMIM 175200 CLINVAR
  602216 CLINVAR
SNOMED CT 254837009 CLINVAR
  54411001 CLINVAR
  699346009 CLINVAR