rs1011685228 Rat Genome Database

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Variant: rs1011685228 -  Homo sapiens

RGD ID: 151716426
RS ID: rs1011685228
ClinVar ID: CV1472795
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPHP3  NPHP3-ACAD11  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 132,411,662
GRCh38 3 132,692,818
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.2311A>G
NG_008130.2:g.34615A>G
NC_000003.12:g.132692818T>C
NC_000003.11:g.132411662T>C
More... 		05/03/2024 missense variant uncertain significance Adolescent nephronophthisis; Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia; GOLDSTON SYNDROME; juvenile nephronophthisis; Meckel syndrome type 7; Nephronophthisis 3; NPHP3-related condition; NPHP3-related disorders; NPHP3-related Meckel-like syndrome
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002039407 CLINVAR
  RCV002503365 CLINVAR
  RCV004741098 CLINVAR
dbSNP (RS) rs1011685228 CLINVAR
MedGen C0687120 CLINVAR
  C3715199 CLINVAR
NCBI Gene NPHP3 CLINVAR
  NPHP3-ACAD11 CLINVAR
OMIM 208540 CLINVAR
  267010 CLINVAR
  604387 CLINVAR
  608002 CLINVAR
SNOMED CT 204958008 CLINVAR
  444749006 CLINVAR