RGD:12847488 Rat Genome Database

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Variant: RGD:12847488 -  Homo sapiens

RGD ID: 12847488
RS ID: rs780579614
ClinVar ID: CV377088
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 11,221,465
GRCh38 19 11,110,789
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_274t1:c.1060+18C>A
LRG_274:g.26409C>A
NG_009060.1:g.26409C>A
NC_000019.10:g.11110789C>A
More... 		09/17/2022 intron variant likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant
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_001195798
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195799
Location:INTRON

Gene Symbol:LDLR
Accession:XM_011528010
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:NM_000527
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195800
Location:INTRON

Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000443577 CLINVAR
  RCV003581664 CLINVAR
dbSNP (RS) rs780579614 CLINVAR
MedGen C0020445 CLINVAR
  CN169374 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 606945 CLINVAR
SNOMED CT 398036000 CLINVAR