RGD:13521698 Rat Genome Database

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Variant: RGD:13521698 -  Homo sapiens

RGD ID: 13521698
RS ID: rs1284033782
ClinVar ID: CV487795
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 11,223,940
GRCh38 19 11,113,264
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_274t1:c.1187-14C>T
LRG_274:g.28884C>T
NG_009060.1:g.28884C>T
NC_000019.10:g.11113264C>T
More... 		05/17/2023 intron variant likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:LDLR
Accession:NM_001195803
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195798
Location:INTRON

Gene Symbol:LDLR
Accession:NM_000527
Location:INTRON

Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195800
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195799
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000589889 CLINVAR
  RCV003767338 CLINVAR
dbSNP (RS) rs1284033782 CLINVAR
MedGen C0020445 CLINVAR
  C3661900 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 606945 CLINVAR
SNOMED CT 398036000 CLINVAR