RGD:11580715 Rat Genome Database

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Variant: RGD:11580715 -  Homo sapiens

RGD ID: 11580715
RS ID: rs139211353
ClinVar ID: CV283462
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 170,007,549
GRCh38 2 169,151,039
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012634.1:g.216574C>T
NC_000002.12:g.169151039G>A
NC_000002.11:g.170007549G>A
NM_004525.3:c.12462-13C>T
More... 		07/15/2021 intron variant benign|uncertain significance antenatal <1 / 1 000 000 Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria; Faciooculoacousticorenal syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRP2
Accession:NM_004525
Location:INTRON

Gene Symbol:LRP2
Accession:XM_047444340
Location:INTRON

Gene Symbol:LRP2
Accession:XM_011511184
Location:INTRON

Gene Symbol:LRP2
Accession:XM_011511183
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000342011 CLINVAR
  RCV001516395 CLINVAR
dbSNP (RS) rs139211353 CLINVAR
MedGen C1857277 CLINVAR
  C3661900 CLINVAR
NCBI Gene LRP2 CLINVAR
OMIM 222448 CLINVAR
  600073 CLINVAR