RGD:13815561 Rat Genome Database

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Variant: RGD:13815561 -  Homo sapiens

RGD ID: 13815561
RS ID: rs1567152003
ClinVar ID: CV573712
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBA-LCR  NPRL3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 188,173
GRCh38 16 138,174
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001077350.3:c.94C>T
NP_001230178.1:p.Gln32Ter
NG_029669.1:g.5525C>T
NC_000016.10:g.138174G>A
More... 		01/08/2018 5 prime utr variant|nonsense pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NPRL3
Accession:NM_001243247
Location:5UTRS;EXON

Gene Symbol:NPRL3
Accession:NM_001039476
Location:5UTRS;EXON

Gene Symbol:NPRL3
Accession:NM_001077350
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDNTSPISVILVSSGSRGNKLLFRYPFQRS*EHPASQTSKPRSRYAASNTGDHADEQDGDSRFSDVILATILATKSEMC
GQKFELKIDNVRFVGHPTLLQHALGQISKTDPSPKREAPTMILFNVVFALRANADPSVINCLHNLSRRIATVLQHEERRC
QYLTREAKLILALQDEVSAMADGNEGPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWLEVSFCLPHKIHYAAS
SLIPPEAIERSLKAIRPYHALLLLSDEKSLLGELPIDCSPALVRVIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWG
KAIIIYPLCENNVYMLSPNASVCLYSPLAEQFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQETQLIQMVVWMLQR
RLLIQLHTYVCLMASPSEEEPRPREDDVPFTARVGGRSLSTPNALSFGSPTSSDDMTLTSPSMDNSSAELLPSGDSPLNQ
RMTENLLASLSEHERAAILSVPAAQNPEDLRMFARLLHYFRGRHHLEEIMYNENTRRSQLLMLFDKFRSVLVVTTHEDPV
IAVFQALLP*

Gene Symbol:NPRL3
Accession:NM_001243248
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDNTSPISVILVSSGSRGNKLLFRYPFQRS*EHPASQTSKPRSRYAASNTGDHADEQDGDSRFSDVILATILATKSEMC
GQKFELKIDNVRFVGHPTLLQHALGQANADPSVINCLHNLSRRIATVLQHEERRCQYLTREAKLILALQDEVSAMADGNE
GPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWLEVSFCLPHKIHYAASSLIPPEAIERSLKAIRPYHALLLLS
DEKSLLGELPIDCSPALVRVIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWGKAIIIYPLCENNVYMLSPNASVCLY
SPLAEQFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQETQLIQMVVWMLQRRLLIQLHTYVCLMASPSEEEPRPRE
DDVPFTARVGGRSLSTPNALSFGSPTSSDDMTLTSPSMDNSSAELLPSGDSPLNQRMTENLLASLSEHERAAILSVPAAQ
NPEDLRMFARLLHYFRGRHHLEEIMYNENTRRSQLLMLFDKFRSVLVVTTHEDPVIAVFQALLP*

Gene Symbol:NPRL3
Accession:NM_001243249
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDNTSPISVILVSSGSRGNKLLFRYPFQRS*EHPASQTSKPRSRYAASNTGDHADEQDGDSRFSDVILATILATKSEMC
GQKFELKIDNVRFVGHPTLLQHALGQANADPSVINCLHNLSRRIATVLQHEERRCQYLTREAKLILALQDEVSAMADGNE
GPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWLEVSFCLPHKIHYAASSLIPPEAIERSLKAIRPYHALLLLS
DEKSLLGELPIDCSPALVRVIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWGKAIIIYPLCENNVYMLSPNASVCLY
SPLAEQFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQETQLIQMVVWMLQRRLLIQLHTYVCLMASPSEEEPRPRE
DDVPFTARVGGRSLSTPNALSFGSPTSSDDMTLTSPSMDNSSAELLPSGDSPLNQRMTENLLASLSEHERAAILSVPAAQ
NPEDLRMFARLLHYFRGRHHLEEIMYNENTRRSQLLMLFDKFRSVLVVTTHEDPVIAVFQALLP*
Variant Samples
Additional References at PubMed
PMID:26285051   PMID:26505888   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000705783 CLINVAR
dbSNP (RS) rs1567152003 CLINVAR
MedGen C4310708 CLINVAR
NCBI Gene 106144573 CLINVAR
  NPRL3 CLINVAR
OMIM 600928 CLINVAR
  617118 CLINVAR