RGD:11603986 Rat Genome Database

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Variant: RGD:11603986 -  Homo sapiens

RGD ID: 11603986
RS ID: rs146319051
ClinVar ID: CV311773
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOC3L  PLCE1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 96,087,968
GRCh38 10 94,328,211
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.339223T>C
NC_000010.11:g.94328211T>C
NC_000010.10:g.96087968T>C
NM_001165979.2:c.*268T>C
More... 		01/12/2018 3 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:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425291
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_017016311
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425292
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425288
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425295
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425285
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425284
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425294
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425303
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:NM_016341
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_006717890
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425290
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425302
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425301
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_017016312
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425289
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425287
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425298
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:NM_001165979
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_006717885
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425293
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425296
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_006717888
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425300
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425299
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_011539850
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_017016310
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425286
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_047425297
Location:3UTRS;EXON

Gene Symbol:PLCE1
Accession:XM_011539851
Location:INTRON

Gene Symbol:NOC3L
Accession:NM_022451
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_011539852
Location:INTRON

Gene Symbol:NOC3L
Accession:XM_047425640
Location:INTRON

Gene Symbol:NOC3L
Accession:XM_047425641
Location:INTRON

Gene Symbol:NOC3L
Accession:XR_002957007
Location:INTRON;NON-CODING

Gene Symbol:NOC3L
Accession:XR_007061982
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000304926 CLINVAR
dbSNP (RS) rs146319051 CLINVAR
MedGen C1853124 CLINVAR
NCBI Gene NOC3L CLINVAR
  PLCE1 CLINVAR
OMIM 608414 CLINVAR
  610725 CLINVAR
  610769 CLINVAR