RGD:8659998 Rat Genome Database

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Variant: RGD:8659998 -  Homo sapiens

RGD ID: 8659998
RS ID: rs140148483
ClinVar ID: CV134989
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRP2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 170,044,783
GRCh38 2 169,188,273
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.179340T>C
NC_000002.12:g.169188273A>G
NC_000002.11:g.170044783A>G
NM_004525.3:c.9033-8T>C
More... 		04/15/2021 intron|intron variant benign|likely benign antenatal <1 / 1 000 000 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:XM_047444340
Location:INTRON

Gene Symbol:LRP2
Accession:XM_011511183
Location:INTRON

Gene Symbol:LRP2
Accession:NM_004525
Location:INTRON

Gene Symbol:LRP2
Accession:XM_011511184
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000117551 CLINVAR
  RCV000402967 CLINVAR
  RCV000958589 CLINVAR
dbSNP (RS) rs140148483 CLINVAR
MedGen C1857277 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LRP2 CLINVAR
OMIM 222448 CLINVAR
  600073 CLINVAR