RGD:11607653 Rat Genome Database

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Variant: RGD:11607653 -  Homo sapiens

RGD ID: 11607653
RS ID: rs17506379
ClinVar ID: CV323946
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLCE1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 95,790,517
GRCh38 10 94,030,760
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.41772G>A
NC_000010.11:g.94030760G>A
NC_000010.10:g.95790517G>A
NM_016341.4:c.-287G>A
More... 		01/13/2018 5 prime utr variant likely benign|uncertain significance NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLCE1
Accession:NM_001288989
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_017016311
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425284
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425293
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425291
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425300
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_006717885
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425292
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425299
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425294
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425297
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425286
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:NM_016341
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_011539851
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425288
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425296
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425298
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_011539852
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425290
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425295
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_017016310
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425285
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425287
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_006717888
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425289
Location:5UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_017016312
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425301
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425303
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_011539850
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425302
Location:INTRON

Gene Symbol:PLCE1
Accession:NM_001165979
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_006717890
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000346006 CLINVAR
dbSNP (RS) rs17506379 CLINVAR
MedGen C1853124 CLINVAR
NCBI Gene PLCE1 CLINVAR
OMIM 608414 CLINVAR
  610725 CLINVAR