RGD:156320830 Rat Genome Database

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Variant: RGD:156320830 -  Homo sapiens

RGD ID: 156320830
ClinVar ID: CV2100983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 11,233,849
GRCh38 19 11,123,173
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.1607-1G>C
NM_001195799.2:c.2018-1G>C
NM_000527.5:c.2141-1G>C
NM_001195798.2:c.2141-1G>C
More... 		10/23/2022 splice acceptor variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LDLR
Accession:NM_001195799
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195803
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_001195798
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195800
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:20809525   PMID:28492532   PMID:28645073  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002899277 CLINVAR
MedGen C0020445 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 606945 CLINVAR
SNOMED CT 398036000 CLINVAR