rs1176486903 Rat Genome Database

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Variant: rs1176486903 -  Homo sapiens

RGD ID: 151825252
RS ID: rs1176486903
ClinVar ID: CV1447021
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPHP3  NPHP3-ACAD11  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 132,419,311
GRCh38 3 132,700,467
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.1629-19T>G
NC_000003.12:g.132700467A>C
NC_000003.11:g.132419311A>C
NG_008130.2:g.26966T>G
 09/15/2023 intron variant likely benign|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 RCV001870002 CLINVAR
dbSNP (RS) rs1176486903 CLINVAR
MedGen C0687120 CLINVAR
NCBI Gene NPHP3 CLINVAR
  NPHP3-ACAD11 CLINVAR
OMIM 608002 CLINVAR
SNOMED CT 204958008 CLINVAR