RGD:151350590 Rat Genome Database

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Variant: RGD:151350590 -  Homo sapiens

RGD ID: 151350590
RS ID: rs2147223016
ClinVar ID: CV1323102
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  LOC127890478  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 11,215,890
GRCh38 19 11,105,214
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.11105214C>G
LRG_274t1:c.314-6C>G
NM_001195799.2:c.191-6C>G
NM_001195803.2:c.314-1351C>G
More... 		07/09/2021 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LDLR
Accession:NM_001195803
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195800
Location:INTRON

Gene Symbol:LDLR
Accession:XM_011528010
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195798
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195799
Location:INTRON

Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Gene Symbol:LDLR
Accession:NM_000527
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001805430 CLINVAR
dbSNP (RS) rs2147223016 CLINVAR
MedGen C0020445 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 606945 CLINVAR
SNOMED CT 398036000 CLINVAR