RGD:8659954 Rat Genome Database

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Variant: RGD:8659954 -  Homo sapiens

RGD ID: 8659954
RS ID: rs115371758
ClinVar ID: CV134941
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 170,137,037
GRCh38 2 169,280,527
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012634.1:g.87086G>A
NC_000002.12:g.169280527C>T
NC_000002.11:g.170137037C>T
NM_004525.3:c.1172-8G>A
More... 		07/15/2021 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; 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_011511184
Location:INTRON

Gene Symbol:LRP2
Accession:XM_047444340
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 RCV000117503 CLINVAR
  RCV000954236 CLINVAR
  RCV001129718 CLINVAR
dbSNP (RS) rs115371758 CLINVAR
MedGen C1857277 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LRP2 CLINVAR
OMIM 222448 CLINVAR
  600073 CLINVAR