rs143930288 Rat Genome Database

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Variant: rs143930288 -  Homo sapiens

RGD ID: 13833725
RS ID: rs143930288
ClinVar ID: CV584963
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129937586  NPHP3  NPHP3-ACAD11  NPHP3-AS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 132,440,924
GRCh38 3 132,722,080
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.276G>C
NG_008130.2:g.5353G>C
NR_002811.2:n.331C>G
NC_000003.12:g.132722080C>G
More... 		12/26/2023 missense variant likely benign|uncertain significance juvenile nephronophthisis; none provided
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:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 92
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-AS1
Accession:NR_152743
Location:EXON;NON-CODING

Gene Symbol:NPHP3-AS1
Accession:NR_002811
Location:EXON;NON-CODING

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000729069 CLINVAR
  RCV001212401 CLINVAR
  RCV004639342 CLINVAR
dbSNP (RS) rs143930288 CLINVAR
MedGen C0687120 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC129937586 CLINVAR
  NPHP3 CLINVAR
  NPHP3-ACAD11 CLINVAR
  NPHP3-AS1 CLINVAR
OMIM 608002 CLINVAR
SNOMED CT 204958008 CLINVAR