RGD:13476887 Rat Genome Database

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Variant: RGD:13476887 -  Homo sapiens

RGD ID: 13476887
RS ID: rs1453118437
ClinVar ID: CV466850
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPRL3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 136,825
GRCh38 16 86,826
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001243247.2:c.1355T>C
NG_029669.1:g.56874T>C
NC_000016.10:g.86826A>G
NC_000016.9:g.136825A>G
More... 		09/28/2018 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NPRL3
Accession:NM_001243248
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 505
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDNTSPISVILVSSGSRGNKLLFRYPFQRSQEHPASQTSKPRSRYAASNTGDHADEQDGDSRFSDVILATILATKSEMC
GQKFELKIDNVRFVGHPTLLQHALGQANADPSVINCLHNLSRRIATVLQHEERRCQYLTREAKLILALQDEVSAMADGNE
GPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWLEVSFCLPHKIHYAASSLIPPEAIERSLKAIRPYHALLLLS
DEKSLLGELPIDCSPALVRVIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWGKAIIIYPLCENNVYMLSPNASVCLY
SPLAEQFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQETQLIQMVVWMLQRRLLIQLHTYVCLMASPSEEEPRPRE
DDVPFTARVGGRSLSTPNALSFGSPTSSDDMTLTSPSMDNSSAELLPSGDSPLNQRMTENLLASLSEHERAAILSVPAAQ
NPEDLRMFARLLHYFRGRHHLEEITYNENTRRSQLLMLFDKFRSVLVVTTHEDPVIAVFQALLP*

Gene Symbol:NPRL3
Accession:NM_001077350
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 530
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDNTSPISVILVSSGSRGNKLLFRYPFQRSQEHPASQTSKPRSRYAASNTGDHADEQDGDSRFSDVILATILATKSEMC
GQKFELKIDNVRFVGHPTLLQHALGQISKTDPSPKREAPTMILFNVVFALRANADPSVINCLHNLSRRIATVLQHEERRC
QYLTREAKLILALQDEVSAMADGNEGPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWLEVSFCLPHKIHYAAS
SLIPPEAIERSLKAIRPYHALLLLSDEKSLLGELPIDCSPALVRVIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWG
KAIIIYPLCENNVYMLSPNASVCLYSPLAEQFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQETQLIQMVVWMLQR
RLLIQLHTYVCLMASPSEEEPRPREDDVPFTARVGGRSLSTPNALSFGSPTSSDDMTLTSPSMDNSSAELLPSGDSPLNQ
RMTENLLASLSEHERAAILSVPAAQNPEDLRMFARLLHYFRGRHHLEEITYNENTRRSQLLMLFDKFRSVLVVTTHEDPV
IAVFQALLP*

Gene Symbol:NPRL3
Accession:NM_001243249
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 505
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDNTSPISVILVSSGSRGNKLLFRYPFQRSQEHPASQTSKPRSRYAASNTGDHADEQDGDSRFSDVILATILATKSEMC
GQKFELKIDNVRFVGHPTLLQHALGQANADPSVINCLHNLSRRIATVLQHEERRCQYLTREAKLILALQDEVSAMADGNE
GPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWLEVSFCLPHKIHYAASSLIPPEAIERSLKAIRPYHALLLLS
DEKSLLGELPIDCSPALVRVIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWGKAIIIYPLCENNVYMLSPNASVCLY
SPLAEQFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQETQLIQMVVWMLQRRLLIQLHTYVCLMASPSEEEPRPRE
DDVPFTARVGGRSLSTPNALSFGSPTSSDDMTLTSPSMDNSSAELLPSGDSPLNQRMTENLLASLSEHERAAILSVPAAQ
NPEDLRMFARLLHYFRGRHHLEEITYNENTRRSQLLMLFDKFRSVLVVTTHEDPVIAVFQALLP*

Gene Symbol:NPRL3
Accession:NM_001243247
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 452
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCGQKFELKIDNVRFVGHPTLLQHALGQISKTDPSPKREAPTMILFNVVFALRANADPSVINCLHNLSRRIATVLQHEER
RCQYLTREAKLILALQDEVSAMADGNEGPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWLEVSFCLPHKIHYA
ASSLIPPEAIERSLKAIRPYHALLLLSDEKSLLGELPIDCSPALVRVIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVY
WGKAIIIYPLCENNVYMLSPNASVCLYSPLAEQFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQETQLIQMVVWML
QRRLLIQLHTYVCLMASPSEEEPRPREDDVPFTARVGGRSLSTPNALSFGSPTSSDDMTLTSPSMDNSSAELLPSGDSPL
NQRMTENLLASLSEHERAAILSVPAAQNPEDLRMFARLLHYFRGRHHLEEITYNENTRRSQLLMLFDKFRSVLVVTTHED
PVIAVFQALLP*

Gene Symbol:NPRL3
Accession:NM_001039476
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADGNEGPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWLEVSFCLPHKIHYAASSLIPPEAIERSLKAIRPYH
ALLLLSDEKSLLGELPIDCSPALVRVIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWGKAIIIYPLCENNVYMLSPN
ASVCLYSPLAEQFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQETQLIQMVVWMLQRRLLIQLHTYVCLMASPSEE
EPRPREDDVPFTARVGGRSLSTPNALSFGSPTSSDDMTLTSPSMDNSSAELLPSGDSPLNQRMTENLLASLSEHERAAIL
SVPAAQNPEDLRMFARLLHYFRGRHHLEEITYNENTRRSQLLMLFDKFRSVLVVTTHEDPVIAVFQALLP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000549345 CLINVAR
dbSNP (RS) rs1453118437 CLINVAR
MedGen C4310708 CLINVAR
NCBI Gene NPRL3 CLINVAR
OMIM 600928 CLINVAR
  617118 CLINVAR