RGD:13492742 Rat Genome Database

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Variant: RGD:13492742 -  Homo sapiens

RGD ID: 13492742
RS ID: rs1555740278
ClinVar ID: CV479817
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STK11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 1,226,625
GRCh38 19 1,226,626
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.1281G>A
LRG_319t1:c.1281G>A
LRG_319:g.42220G>A
NG_007460.2:g.42220G>A
More... 		12/30/2015 synonymous variant likely benign Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; 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: L to L (synonymous)
Amino Acid Position: 427
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 Information

Database Acc Id Source(s)
ClinVar RCV000570686 CLINVAR
dbSNP (RS) rs1555740278 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene STK11 CLINVAR
OMIM 602216 CLINVAR
SNOMED CT 699346009 CLINVAR