RGD:38476782 Rat Genome Database

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Variant: RGD:38476782 -  Homo sapiens

RGD ID: 38476782
RS ID: rs778455414
ClinVar ID: CV940363
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC12A3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 56,928,555
GRCh38 16 56,894,643
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001126108.2:c.2633+1G>A
NM_001126107.2:c.2657+1G>A
NM_000339.3:c.2660+1G>A
NG_009386.2:g.34437G>A
More... 		04/27/2022 splice donor variant pathogenic 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:SLC12A3
Accession:NM_000339
Location:INTRON

Gene Symbol:SLC12A3
Accession:NM_001126108
Location:INTRON

Gene Symbol:SLC12A3
Accession:NM_001126107
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SLC12A3
Accession:NM_001410896
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:20848653   PMID:22009145   PMID:22679066   PMID:24830959   PMID:25741868   PMID:25841442   PMID:28492532   PMID:29403282   PMID:30413979   PMID:30596175  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001204837 CLINVAR
  RCV001833800 CLINVAR
dbSNP (RS) rs778455414 CLINVAR
MedGen C0268450 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC12A3 CLINVAR
OMIM 263800 CLINVAR
  600968 CLINVAR
SNOMED CT 3188003 CLINVAR