RGD:155796205 Rat Genome Database

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Variant: RGD:155796205 -  Homo sapiens

RGD ID: 155796205
ClinVar ID: CV1861704
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 11,242,010
GRCh38 19 11,131,334
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.11131334C>T
NC_000019.9:g.11242010C>T
LRG_274t1:c.*18C>T
NM_000527.5:c.*18C>T
More... 		11/12/2022 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LDLR
Accession:NM_001195803
Location:3UTRS;EXON

Gene Symbol:LDLR
Accession:NM_001195798
Location:3UTRS;EXON

Gene Symbol:LDLR
Accession:NM_000527
Location:3UTRS;EXON

Gene Symbol:LDLR
Accession:NM_001195799
Location:3UTRS;EXON

Gene Symbol:LDLR
Accession:NM_001195800
Location:3UTRS;EXON

Gene Symbol:LDLR
Accession:XM_011528010
Location:3UTRS;EXON

Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002469985 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 606945 CLINVAR