rs35485382 Rat Genome Database

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Variant: rs35485382 -  Homo sapiens

RGD ID: 10449898
RS ID: rs35485382
ClinVar ID: CV215270
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPHP3  NPHP3-ACAD11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 132,400,834
GRCh38 3 132,681,990
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000003.12:g.132681990G>A
NC_000003.11:g.132400834G>A
NP_694972.3:p.Arg1305Cys
Q7Z494:p.Arg1305Cys
More...
12/31/2019 missense variant benign|likely benign|conflicting interpretations of pathogenicity Adolescent nephronophthisis; AllHighlyPenetrant; Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia; GOLDSTON SYNDROME; juvenile nephronophthisis; Kidney disease; Kidney Diseases; Meckel syndrome type 7; Nephropathy; none provided; renal disorder
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV215270Humankidney disease  IAGP 8554872ClinVar Annotator: match by term: Kidney DiseasesClinVarPMID:25741868 and PMID:28492532
CV215270HumanMeckel syndrome 7  IAGP 8554872ClinVar Annotator: match by term: Meckel syndrome type 7ClinVarPMID:25741868 and PMID:28492532
CV215270Humannephronophthisis  IAGP 8554872ClinVar Annotator: match by term: NephronophthisisClinVarPMID:25741868 and PMID:28492532
CV215270Humannephronophthisis 1  IAGP 8554872ClinVar Annotator: match by term: juvenile nephronophthisisClinVarPMID:25741868 and PMID:28492532
CV215270Humannephronophthisis 3  IAGP 8554872ClinVar Annotator: match by term: Nephronophthisis 3ClinVarPMID:25741868 and PMID:28492532
CV215270HumanRenal-Hepatic-Pancreatic Dysplasia 1  IAGP 8554872ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1ClinVarPMID:25741868 and PMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV215270HumanNephronophthisis  IAGP 8554872ClinVar Annotator: match by term: juvenile nephronophthisisClinVarPMID:25741868 and PMID:28492532
CV215270HumanNephropathy  IAGP 8554872ClinVar Annotator: match by term: NephropathyClinVarPMID:25741868 and PMID:28492532

Gene Symbol:NPHP3
Accession:NM_153240
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 1305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTASSLVSPAGGEVIEDTYGAGGGEACEIPVEVKPKARLLRNSFRRGAGAAAGAGPGSLPRGVGAGGLLGASFKSTGSS
VPELEYAAAEYERLRKEYEIFRVSKNQELLSMGRREAKLDTENKRLRAELQALQKTYQKILREKESALEAKYQAMERAAT
FEHDRDKVKRQFKIFRETKENEIQDLLRAKRELESKLQRLQAQGIQVFDPGESDSDDNCTDVTAAGTQCEYWTGGALGSE
PSIGSMIQLQQSFRGPEFAHSSIDVEGPFANVNRDDWDIAVASLLQVTPLFSHSLWSNTVRCYLIYTDETQPEMDLFLKD
YSPKLKRMCETMGYFFHAVYFPIDVENQYLTVRKWEIEKSSLVILFIHLTLPSLLLEDCEEAFLKNPEGKPRLIFHRLED
GKVSSDSVQQLIDQVSNLNKTSKAKIIDHSGDPAEGVYKTYICVEKIIKQDILGFENTDLETKDLGSEDSIPEEDDFGDV
LWDIHDEQEQMETFQQASNSAHELGFEKYYQRLNDLVAAPAPIPPLLVSGGPGSGKSLLLSKWIQLQQKNSPNTLILSHF
VGRPMSTSSESSLIIKRLTLKLMQHSWSVSALTLDPAKLLEEFPRWLEKLSARHQGSIIIVIDSIDQVQQVEKHMKWLID
PLPVNVRVIVSVNVETCPPAWRLWPTLHLDPLSPKDAKSIIIAECHSVDIKLSKEQEKKLERHCRSATTCNALYVTLFGK
MIARAGRAGNLDKILHQCFQCQDTLSLYRLVLHSIRESMANDVDKELMKQILCLVNVSHNGVSESELMELYPEMSWTFLT
SLIHSLYKMCLLTYGCGLLRFQHLQAWETVRLEYLEGPTVTSSYRQKLINYFTLQLSQDRVTWRSADELPWLFQQQGSKQ
KLHDCLLNLFVSQNLYKRGHFAELLSYWQFVGKDKSAMATEYFDSLKQYEKNCEGEDNMSCLADLYETLGRFLKDLGLLS
QAIVPLQRSLEIRETALDPDHPRVAQSLHQLASVYVQWKKFGNAEQLYKQALEISENAYGADHPYTARELEALATLYQKQ
NKYEQAEHFRKKSFKIHQKAIKKKGNLYGFALLRRRALQLEELTLGKDTPDNARTLNELGVLYYLQNNLETADQFLKRSL
EMRERVLGPDHPDCAQSLNNLAALCNEKKQYDKAEELYERALDIRRRALAPDHPSLAYTVKHLAILYKKMGKLDKAVPLY
ELAVEIRQKSFGPKHPSVATALVNLAVLYSQMKKHVEALPLYERALKIYEDSLGRMHPRVGETLKNLAVLSYEGGDFEKA
AELYKRAMEIKEAETSLLGGKAPSSHSSSGDTFSLKTAHSPNVFLQQGQR*

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

.
PMID:25741868   PMID:28492532  



1 to 24 of 24 rows
Database
Acc Id
Source(s)
ClinVar RCV000203073 CLINVAR
  RCV000224078 CLINVAR
  RCV000311584 CLINVAR
  RCV000350963 CLINVAR
  RCV000393358 CLINVAR
  RCV001094832 CLINVAR
  RCV002294078 CLINVAR
dbSNP (RS) rs35485382 CLINVAR
MedGen C0022658 CLINVAR
  C0687120 CLINVAR
  C1858392 CLINVAR
  C2673885 CLINVAR
  C3661900 CLINVAR
  C3715199 CLINVAR
  CN169374 CLINVAR
NCBI Gene NPHP3 CLINVAR
  NPHP3-ACAD11 CLINVAR
OMIM 208540 CLINVAR
  267010 CLINVAR
  604387 CLINVAR
  608002 CLINVAR
SNOMED CT 204958008 CLINVAR
  444749006 CLINVAR
  90708001 CLINVAR
1 to 24 of 24 rows