RGD:405052333 Rat Genome Database

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Variant: RGD:405052333 -  Homo sapiens

RGD ID: 405052333
ClinVar ID: CV3056037
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 11,238,780
GRCh38 19 11,128,104
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001195803.2:c.1855+19C>T
NM_001195800.2:c.1885+19C>T
NM_001195799.2:c.2266+19C>T
NM_000527.5:c.2389+19C>T
More... 		10/11/2023 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LDLR
Accession:NM_001195798
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:XM_011528010
Location:INTRON

Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Gene Symbol:LDLR
Accession:NM_000527
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195803
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195800
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195799
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003740721 CLINVAR
MedGen C0020445 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 606945 CLINVAR
SNOMED CT 398036000 CLINVAR