RGD:28875704 Rat Genome Database

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Variant: RGD:28875704 -  Homo sapiens

RGD ID: 28875704
RS ID: rs528016062
ClinVar ID: CV881432
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 169,984,124
GRCh38 2 169,127,614
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.239999G>A
NC_000002.12:g.169127614C>T
NC_000002.11:g.169984124C>T
NM_004525.3:c.*1049G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria; Faciooculoacousticorenal syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRP2
Accession:XM_011511184
Location:3UTRS;EXON

Gene Symbol:LRP2
Accession:XM_011511183
Location:3UTRS;EXON

Gene Symbol:LRP2
Accession:XM_047444340
Location:3UTRS;EXON

Gene Symbol:LRP2
Accession:NM_004525
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001134087 CLINVAR
dbSNP (RS) rs528016062 CLINVAR
MedGen C1857277 CLINVAR
NCBI Gene LRP2 CLINVAR
OMIM 222448 CLINVAR
  600073 CLINVAR