RGD:14728700 Rat Genome Database

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Variant: RGD:14728700 -  Homo sapiens

RGD ID: 14728700
RS ID: rs1277893899
ClinVar ID: CV643903
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBA-LCR  NPRL3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 180,590
GRCh38 16 130,591
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.119G>C
NG_029669.1:g.13108G>C
NG_042799.1:g.42884C>G
NC_000016.10:g.130591C>G
More... 		08/25/2018 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NPRL3
Accession:NM_001039476
Location:5UTRS;INTRON

Gene Symbol:NPRL3
Accession:NM_001243247
Location:5UTRS;INTRON

Gene Symbol:NPRL3
Accession:NM_001077350
Location:INTRON

Gene Symbol:NPRL3
Accession:NM_001243248
Location:INTRON

Gene Symbol:NPRL3
Accession:NM_001243249
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000800169 CLINVAR
dbSNP (RS) rs1277893899 CLINVAR
MedGen C4310708 CLINVAR
NCBI Gene 106144573 CLINVAR
  NPRL3 CLINVAR
OMIM 600928 CLINVAR
  617118 CLINVAR