RGD:401797407 Rat Genome Database

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Variant: RGD:401797407 -  Homo sapiens

RGD ID: 401797407
ClinVar ID: CV2742216
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  LOC127890478  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 11,215,880
GRCh38 19 11,105,204
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.314-1361C>G
NM_000527.5:c.314-16C>G
NG_009060.1:g.20824C>G
NM_000527.4:c.314-16C>G
More... 		07/22/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LDLR
Accession:XM_011528010
Location:INTRON

Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:NM_000527
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195798
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 Information

Database Acc Id Source(s)
ClinVar RCV003324395 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 606945 CLINVAR