RGD:14696464 Rat Genome Database

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Variant: RGD:14696464 -  Homo sapiens

RGD ID: 14696464
RS ID: rs1568614967
ClinVar ID: CV623085
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 11,234,030
GRCh38 19 11,123,354
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.11123354G>A
NC_000019.9:g.11234030G>A
LRG_274t1:c.2311+10G>A
LRG_274:g.38974G>A
More... 		03/21/2016 intron variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195803
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195798
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195799
Location:INTRON

Gene Symbol:LDLR
Accession:NM_000527
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195800
Location:INTRON

Gene Symbol:LDLR
Accession:XM_011528010
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000786343 CLINVAR
dbSNP (RS) rs1568614967 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 606945 CLINVAR