RGD:150473502 Rat Genome Database

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Variant: RGD:150473502 -  Homo sapiens

RGD ID: 150473502
RS ID: rs6581127
ClinVar ID: CV1272181
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRP1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 57,581,028
GRCh38 12 57,187,245
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002332.3:c.6842-22C>G
NG_016444.1:g.63747C>G
NC_000012.12:g.57187245C>G
NC_000012.11:g.57581028C>G
More... 		08/19/2021 intron variant benign Hyperkeratosis pilaris; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LRP1
Accession:NM_002332
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001695719 CLINVAR
  RCV001730972 CLINVAR
dbSNP (RS) rs6581127 CLINVAR
MedGen C0263383 CLINVAR
  C3661900 CLINVAR
NCBI Gene LRP1 CLINVAR
OMIM 107770 CLINVAR
SNOMED CT 5132005 CLINVAR