RGD:405120234 Rat Genome Database

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Variant: RGD:405120234 -  Homo sapiens

RGD ID: 405120234
ClinVar ID: CV2993987
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LPL  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 19,809,278
GRCh38 8 19,951,767
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1298t1:c.250-2A>C
NM_000237.3:c.250-2A>C
LRG_1298:g.55051A>C
NG_008855.2:g.55051A>C
More... 		03/04/2023 splice acceptor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:LPL
Accession:NM_000237
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11334614   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003723808 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LPL CLINVAR
OMIM 609708 CLINVAR