rs201418194 Rat Genome Database

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Variant: rs201418194 -  Homo sapiens

RGD ID: 11606326
RS ID: rs201418194
ClinVar ID: CV323972
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLCE1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 95,994,076
GRCh38 10 94,234,319
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.245331C>T
NC_000010.11:g.94234319C>T
NC_000010.10:g.95994076C>T
NM_001165979.2:c.1290+7C>T
More... 		10/20/2023 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance Kidney disease; Kidney Diseases; Nephropathy; NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3; none provided; renal disorder
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Nephropathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:PLCE1
Accession:NM_016341
Location:INTRON

Gene Symbol:PLCE1
Accession:NM_001165979
Location:INTRON

Gene Symbol:PLCE1
Accession:NM_001288989
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_006717885
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_006717888
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_006717890
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_011539851
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_011539852
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_011539850
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_017016310
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_017016311
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_017016312
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425285
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425289
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425297
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425287
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425290
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425286
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425284
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425291
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425296
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425298
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425294
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425288
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425292
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425293
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425295
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425300
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425299
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425302
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425301
Location:INTRON

Gene Symbol:PLCE1
Accession:XM_047425303
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000330308 CLINVAR
  RCV002294256 CLINVAR
  RCV002520648 CLINVAR
dbSNP (RS) rs201418194 CLINVAR
MedGen C0022658 CLINVAR
  C1853124 CLINVAR
  C3661900 CLINVAR
NCBI Gene PLCE1 CLINVAR
OMIM 608414 CLINVAR
  610725 CLINVAR
SNOMED CT 90708001 CLINVAR