RGD:156095425 Rat Genome Database

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Variant: RGD:156095425 -  Homo sapiens

RGD ID: 156095425
ClinVar ID: CV2183497
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPHP3  NPHP3-ACAD11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 132,415,565
GRCh38 3 132,696,721
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_153240.5:c.2171+10G>A
NG_008130.2:g.30712G>A
NC_000003.12:g.132696721C>T
NC_000003.11:g.132415565C>T
 10/05/2022 intron variant uncertain significance juvenile nephronophthisis
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:NPHP3
Accession:NM_153240
Location:INTRON

Gene Symbol:NPHP3-ACAD11
Accession:NR_037804
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003054519 CLINVAR
MedGen C0687120 CLINVAR
NCBI Gene NPHP3 CLINVAR
  NPHP3-ACAD11 CLINVAR
OMIM 608002 CLINVAR
SNOMED CT 204958008 CLINVAR