RGD:152981558 Rat Genome Database

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Variant: RGD:152981558 -  Homo sapiens

RGD ID: 152981558
RS ID: rs768247312
ClinVar ID: CV1676879
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLR  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 11,218,194
GRCh38 19 11,107,518
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_274:g.23138A>T
NG_009060.1:g.23138A>T
NC_000019.10:g.11107518A>T
NM_001195800.2:c.436+4A>T
More... 		05/04/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Gene Symbol:LDLR
Accession:NM_000527
Location:INTRON

Gene Symbol:LDLR
Accession:XM_011528010
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195803
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195798
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 RCV002247946 CLINVAR
dbSNP (RS) rs768247312 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LDLR CLINVAR
OMIM 606945 CLINVAR