rs148019349 Rat Genome Database

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Variant: rs148019349 -  Homo sapiens

RGD ID: 13442756
RS ID: rs148019349
ClinVar ID: CV434702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NRL  PCK2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 24,572,466
GRCh38 14 24,103,257
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008162.2:g.13984T>C
NC_000014.9:g.24103257T>C
NC_000014.8:g.24572466T>C
NM_006177.5:c.-254+11465A>G
More... 		07/16/2024 intron variant|splice donor variant pathogenic|likely benign|uncertain significance|not provided none provided; PCK2 DEFICIENCY; PCK2-related condition; PEPCK2 DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NRL
Accession:NM_006177
Location:5UTRS;INTRON

Gene Symbol:NRL
Accession:NM_001354768
Location:5UTRS;INTRON

Gene Symbol:NRL
Accession:NM_001354770
Location:5UTRS;INTRON

Gene Symbol:NRL
Accession:XM_011536801
Location:INTRON

Gene Symbol:NRL
Accession:NM_001354769
Location:INTRON

Gene Symbol:PCK2
Accession:NM_004563
Location:INTRON

Gene Symbol:NRL
Accession:XM_011536805
Location:INTRON

Gene Symbol:PCK2
Accession:XM_047431429
Location:INTRON

Gene Symbol:NRL
Accession:XM_011536806
Location:INTRON

Gene Symbol:PCK2
Accession:NM_001018073
Location:INTRON

Gene Symbol:PCK2
Accession:XM_006720158
Location:INTRON

Gene Symbol:PCK2
Accession:NM_001291556
Location:INTRON

Gene Symbol:PCK2
Accession:NM_001308054
Location:INTRON

Gene Symbol:PCK2
Accession:XM_047431428
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000509359 CLINVAR
  RCV002060174 CLINVAR
  RCV004755943 CLINVAR
dbSNP (RS) rs148019349 CLINVAR
MedGen C1849821 CLINVAR
  C3661900 CLINVAR
NCBI Gene NRL CLINVAR
  PCK2 CLINVAR
OMIM 162080 CLINVAR
  261650 CLINVAR
  614095 CLINVAR