rs1233421790 Rat Genome Database

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Variant: rs1233421790 -  Homo sapiens

RGD ID: 13517867
RS ID: rs1233421790
ClinVar ID: CV491043
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129937586  NPHP3  NPHP3-ACAD11  NPHP3-AS1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 132,440,938
GRCh38 3 132,722,094
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.262G>T
NG_008130.2:g.5339G>T
NR_002811.2:n.345C>A
NR_152743.1:n.345C>A
More... 		07/05/2022 missense variant 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: A to T (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTASSLVSPAGGEVIEDTYGAGGGEACEIPVEVKPKARLLRNSFRRGAGAAAGAGPGSLPRGVGAGGLLGASFKSTGSS
VPELEYATAEYERLRKEYEIFRVSKNQELLSMGRREAKLDTENKRLRAELQALQKTYQKILREKESALEAKYQAMERAAT
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

Gene Symbol:NPHP3-AS1
Accession:NR_152743
Location:EXON;NON-CODING

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000596896 CLINVAR
  RCV001867955 CLINVAR
dbSNP (RS) rs1233421790 CLINVAR
MedGen C0687120 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC129937586 CLINVAR
  NPHP3 CLINVAR
  NPHP3-ACAD11 CLINVAR
  NPHP3-AS1 CLINVAR
OMIM 608002 CLINVAR
SNOMED CT 204958008 CLINVAR