RGD:11608495 Rat Genome Database

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Variant: RGD:11608495 -  Homo sapiens

RGD ID: 11608495
RS ID: rs148239915
ClinVar ID: CV311768
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLCE1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 96,058,130
GRCh38 10 94,298,373
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_015799.1:g.309385G>T
NC_000010.11:g.94298373G>T
NC_000010.10:g.96058130G>T
NM_001288989.2:c.5120-6G>T
More... 		09/10/2019 intron variant likely benign|uncertain significance NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLCE1
Accession:XM_011539852
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425303
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_006717885
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425290
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425292
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_017016311
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425288
Location:INTRON

Gene Symbol:PLCE1
Accession:NM_001165979
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425294
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_017016312
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425300
Location:INTRON

Gene Symbol:PLCE1
Accession:NM_016341
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425297
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425293
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425286
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425291
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425285
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425296
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_011539850
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_017016310
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425302
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_006717890
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425287
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425301
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_011539851
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425284
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425299
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425289
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425298
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425295
Location:INTRON

Gene Symbol:PLCE1
Accession:NM_001288989
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_006717888
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000355722 CLINVAR
  RCV000980371 CLINVAR
dbSNP (RS) rs148239915 CLINVAR
MedGen C1853124 CLINVAR
  C3661900 CLINVAR
NCBI Gene PLCE1 CLINVAR
OMIM 608414 CLINVAR
  610725 CLINVAR