RGD:9834803 Rat Genome Database

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Variant: RGD:9834803 -  Homo sapiens

RGD ID: 9834803
RS ID: rs730881986
ClinVar ID: CV181044
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STK11  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 1,207,063
GRCh38 19 1,207,064
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.151A>C
LRG_319:g.22658A>C
NG_007460.2:g.22658A>C
NC_000019.10:g.1207064A>C
More... 		02/25/2020 missense variant uncertain significance adolescent 1-9 / 100 000 B-K MOLE SYNDROME; Cancer predisposition; Cutaneous malignant melanoma 1; DYSPLASTIC NEVUS SYNDROME, HEREDITARY; FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Lentiginosis, perioral; MELANOMA, MALIGNANT; MELANOMA, MALIGNANT, SOMATIC; 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
Melanoma  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:STK11
Accession:NM_000455
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLLGDLLGEGSYGKVKEVLDSETLCRRAVKIL
KKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQL
IDGLEYLHSQGIVHKDIKPGNLLLTTGGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
AGVTLYNITTGLYPFEGDNIYKLFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPV
PIPPSPDTKDRWRSMTVVPYLEDLHGADEDEDLFDIEDDIIYTQDFTVPGQVPEEEASHNGQRRGLPKAVCMNGTEAAQL
STKSRAEGRAPNPARKACSASSKIRRLSACKQQ*

Gene Symbol:STK11
Accession:NM_001407255
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLLGDLLGEGSYGKVKEVLDSETLCRRAVKIL
KKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQL
IDGLEYLHSQGIVHKDIKPGNLLLTTGGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
AGVTLYNITTGLYPFEGDNIYKLFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPV
PIPPSPDTKDRWRSMTVVPYLEDLHGADEDEDLFDIEDDIIYTQDFTVPGGEEASEAGLRAERGLQKSEGSDLSGEEASR
PAPQ*

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000161009 CLINVAR
  RCV000470806 CLINVAR
  RCV000579540 CLINVAR
  RCV003467272 CLINVAR
dbSNP (RS) rs730881986 CLINVAR
MedGen C0027672 CLINVAR
  C0031269 CLINVAR
  C1835047 CLINVAR
  C3661900 CLINVAR
NCBI Gene STK11 CLINVAR
OMIM 155600 CLINVAR
  175200 CLINVAR
  602216 CLINVAR
SNOMED CT 54411001 CLINVAR
  699346009 CLINVAR