RGD:11543613 Rat Genome Database

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Variant: RGD:11543613 -  Homo sapiens

RGD ID: 11543613
RS ID: rs2289116
ClinVar ID: CV255844
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127884069  SLC12A3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 56,938,290
GRCh38 16 56,904,378
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009386.1:g.44172G>A
NC_000016.10:g.56904378G>A
NC_000016.9:g.56938290G>A
NM_000339.3:c.2884-17G>A
More... 		12/08/2020 intron variant benign AllHighlyPenetrant; Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria; none provided; Potassium and magnesium depletion
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SLC12A3
Accession:NM_000339
Location:INTRON

Gene Symbol:SLC12A3
Accession:NM_001126108
Location:INTRON

Gene Symbol:SLC12A3
Accession:NM_001410896
Location:INTRON

Gene Symbol:SLC12A3
Accession:NM_001126107
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000242696 CLINVAR
  RCV001523530 CLINVAR
  RCV001543032 CLINVAR
dbSNP (RS) rs2289116 CLINVAR
MedGen C0268450 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC12A3 CLINVAR
OMIM 263800 CLINVAR
  600968 CLINVAR
SNOMED CT 3188003 CLINVAR