rs199567279 Rat Genome Database

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Variant: rs199567279 -  Homo sapiens

RGD ID: 151731134
RS ID: rs199567279
ClinVar ID: CV1457908
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105369736  LRRK2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 40,753,248
GRCh38 12 40,359,446
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198578.4:c.7028+2T>C
NG_011709.1:g.139436T>C
NC_000012.12:g.40359446T>C
NC_000012.11:g.40753248T>C
More...
11/28/2022 splice donor variant uncertain significance LRRK2-Related Parkinson Disease; Parkinson disease 8, susceptibility to
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRRK2
Accession:XM_047428279
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_047428277
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_047428278
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_005268629
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_017018787
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_011537877
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_024448833
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_011537882
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_017018786
Location:INTRON

Gene Symbol:LRRK2
Accession:NM_198578
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_011537881
Location:INTRON

Gene Symbol:LOC105369736
Accession:XR_944868
Location:INTRON;NON-CODING

Gene Symbol:LOC105369736
Accession:XR_944867
Location:INTRON;NON-CODING

Gene Symbol:LOC105369736
Accession:XR_944866
Location:INTRON;NON-CODING

Gene Symbol:LRRK2
Accession:XR_007063041
Location:INTRON;NON-CODING

Gene Symbol:LOC105369736
Accession:XR_007063562
Location:INTRON;NON-CODING

Gene Symbol:LOC105369736
Accession:XR_944869
Location:INTRON;NON-CODING

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Variant Samples
Additional References at PubMed
PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001967123 CLINVAR
dbSNP (RS) rs199567279 CLINVAR
MedGen C1846862 CLINVAR
NCBI Gene LRRK2 CLINVAR
OMIM 607060 CLINVAR
  609007 CLINVAR