RGD:405175251 Rat Genome Database

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Variant: RGD:405175251 -  Homo sapiens

RGD ID: 405175251
ClinVar ID: CV2932822
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPHP3  NPHP3-ACAD11  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 132,409,398
GRCh38 3 132,690,554
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_153240.5:c.2667C>A
NG_008130.2:g.36879C>A
NC_000003.12:g.132690554G>T
NC_000003.11:g.132409398G>T
More...
11/23/2022 non-coding transcript variant likely benign juvenile nephronophthisis
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2932822Humannephronophthisis  IAGP 8554872ClinVar Annotator: match by term: NephronophthisisClinVarPMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2932822HumanNephronophthisis  IAGP 8554872ClinVar Annotator: match by term: NephronophthisisClinVarPMID:28492532

Gene Symbol:NPHP3
Accession:NM_153240
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 889
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTASSLVSPAGGEVIEDTYGAGGGEACEIPVEVKPKARLLRNSFRRGAGAAAGAGPGSLPRGVGAGGLLGASFKSTGSS
VPELEYAAAEYERLRKEYEIFRVSKNQELLSMGRREAKLDTENKRLRAELQALQKTYQKILREKESALEAKYQAMERAAT
FEHDRDKVKRQFKIFRETKENEIQDLLRAKRELESKLQRLQAQGIQVFDPGESDSDDNCTDVTAAGTQCEYWTGGALGSE
PSIGSMIQLQQSFRGPEFAHSSIDVEGPFANVNRDDWDIAVASLLQVTPLFSHSLWSNTVRCYLIYTDETQPEMDLFLKD
YSPKLKRMCETMGYFFHAVYFPIDVENQYLTVRKWEIEKSSLVILFIHLTLPSLLLEDCEEAFLKNPEGKPRLIFHRLED
GKVSSDSVQQLIDQVSNLNKTSKAKIIDHSGDPAEGVYKTYICVEKIIKQDILGFENTDLETKDLGSEDSIPEEDDFGDV
LWDIHDEQEQMETFQQASNSAHELGFEKYYQRLNDLVAAPAPIPPLLVSGGPGSGKSLLLSKWIQLQQKNSPNTLILSHF
VGRPMSTSSESSLIIKRLTLKLMQHSWSVSALTLDPAKLLEEFPRWLEKLSARHQGSIIIVIDSIDQVQQVEKHMKWLID
PLPVNVRVIVSVNVETCPPAWRLWPTLHLDPLSPKDAKSIIIAECHSVDIKLSKEQEKKLERHCRSATTCNALYVTLFGK
MIARAGRAGNLDKILHQCFQCQDTLSLYRLVLHSIRESMANDVDKELMKQILCLVNVSHNGVSESELMELYPEMSWTFLT
SLIHSLYKMCLLTYGCGLLRFQHLQAWETVRLEYLEGPTVTSSYRQKLINYFTLQLSQDRVTWRSADELPWLFQQQGSKQ
KLHDCLLNLFVSQNLYKRGHFAELLSYWQFVGKDKSAMATEYFDSLKQYEKNCEGEDNMSCLADLYETLGRFLKDLGLLS
QAIVPLQRSLEIRETALDPDHPRVAQSLHQLASVYVQWKKFGNAEQLYKQALEISENAYGADHPYTARELEALATLYQKQ
NKYEQAEHFRKKSFKIHQKAIKKKGNLYGFALLRRRALQLEELTLGKDTPDNARTLNELGVLYYLQNNLETADQFLKRSL
EMRERVLGPDHPDCAQSLNNLAALCNEKKQYDKAEELYERALDIRRRALAPDHPSLAYTVKHLAILYKKMGKLDKAVPLY
ELAVEIRQKSFGPKHPSVATALVNLAVLYSQMKKHVEALPLYERALKIYEDSLGRMHPRVGETLKNLAVLSYEGGDFEKA
AELYKRAMEIKEAETSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQR*

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

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003588031 CLINVAR
MedGen C0687120 CLINVAR
NCBI Gene NPHP3 CLINVAR
  NPHP3-ACAD11 CLINVAR
OMIM 608002 CLINVAR
SNOMED CT 204958008 CLINVAR