rs775978755 Rat Genome Database

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Variant: rs775978755 -  Homo sapiens

RGD ID: 13475584
RS ID: rs775978755
ClinVar ID: CV469396
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STK11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 1,226,588
GRCh38 19 1,226,589
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007460.2:g.42183G>A
LRG_319p1:p.Arg415His
NC_000019.10:g.1226589G>A
NP_000446.1:p.Arg415His
More... 		12/25/2023 missense variant conflicting interpretations of pathogenicity|uncertain significance 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; 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: R to H (nonsynonymous)
Amino Acid Position: 415
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEVLDSETLCRRAVKIL
KKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQL
IDGLEYLHSQGIVHKDIKPGNLLLTTGGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
AGVTLYNITTGLYPFEGDNIYKLFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPV
PIPPSPDTKDRWRSMTVVPYLEDLHGADEDEDLFDIEDDIIYTQDFTVPGQVPEEEASHNGQRRGLPKAVCMNGTEAAQL
STKSRAEGRAPNPAHKACSASSKIRRLSACKQQ*

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:26467025   PMID:28492532   PMID:30287823   PMID:30885352   PMID:33020649  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000551966 CLINVAR
  RCV000568457 CLINVAR
  RCV002305502 CLINVAR
  RCV003459197 CLINVAR
dbSNP (RS) rs775978755 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