RGD:152979860 Rat Genome Database

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Variant: RGD:152979860 -  Homo sapiens

RGD ID: 152979860
RS ID: rs2145426930
ClinVar ID: CV1678242
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STK11  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 1,221,261
GRCh38 19 1,221,262
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000455.5:c.784A>T
LRG_319:g.36856A>T
NC_000019.9:g.1221261A>T
NG_007460.2:g.36856A>T
More... 		05/04/2022 nonsense pathogenic B-K MOLE SYNDROME; Cutaneous malignant melanoma 1; DYSPLASTIC NEVUS SYNDROME, HEREDITARY; FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME; MELANOMA, MALIGNANT; MELANOMA, MALIGNANT, SOMATIC
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: K to * (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEVLDSETLCRRAVKIL
KKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQL
IDGLEYLHSQGIVHKDIKPGNLLLTTGGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
AGVTLYNITTGLYPFEGDNIY*LFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPV
PIPPSPDTKDRWRSMTVVPYLEDLHGADEDEDLFDIEDDIIYTQDFTVPGQVPEEEASHNGQRRGLPKAVCMNGTEAAQL
STKSRAEGRAPNPARKACSASSKIRRLSACKQQ*

Gene Symbol:STK11
Accession:NM_001407255
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEVLDSETLCRRAVKIL
KKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQL
IDGLEYLHSQGIVHKDIKPGNLLLTTGGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
AGVTLYNITTGLYPFEGDNIY*LFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPV
PIPPSPDTKDRWRSMTVVPYLEDLHGADEDEDLFDIEDDIIYTQDFTVPGGEEASEAGLRAERGLQKSEGSDLSGEEASR
PAPQ*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002246746 CLINVAR
dbSNP (RS) rs2145426930 CLINVAR
MedGen C1835047 CLINVAR
NCBI Gene STK11 CLINVAR
OMIM 155600 CLINVAR
  602216 CLINVAR