RGD:28894550 Rat Genome Database

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Variant: RGD:28894550 -  Homo sapiens

RGD ID: 28894550
RS ID: rs548605358
ClinVar ID: CV879915
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STK11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 1,206,333
GRCh38 19 1,206,334
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_319t1:c.-580G>A
NG_007460.2:g.21928G>A
NC_000019.10:g.1206334G>A
NC_000019.9:g.1206333G>A
More... 		04/16/2018 5 prime utr variant benign Lentiginosis, perioral; Periorificial lentiginosis syndrome; Peutz-Jeghers polyposis; Polyposis, hamartomatous intestinal; Polyps-and-spots syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STK11
Accession:NM_000455
Location:5UTRS;EXON

Gene Symbol:STK11
Accession:NM_001407255
Location:5UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001122147 CLINVAR
dbSNP (RS) rs548605358 CLINVAR
MedGen C0031269 CLINVAR
NCBI Gene STK11 CLINVAR
OMIM 175200 CLINVAR
  602216 CLINVAR
SNOMED CT 54411001 CLINVAR