RGD:11634867 Rat Genome Database

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Variant: RGD:11634867 -  Homo sapiens

RGD ID: 11634867
RS ID: rs886052166
ClinVar ID: CV343481
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC12A3  
Reference Nucleotide: -
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 56,947,832
GRCh38 16 56,913,920
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001126107.2:c.*515_*516insA
NM_001126108.2:c.*515_*516insA
NG_009386.1:g.53714_53715insA
NC_000016.10:g.56913920_56913921insA
More... 		06/14/2016 3 prime utr variant uncertain significance childhood 1-9 / 100 000 Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria; Potassium and magnesium depletion
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC12A3
Accession:NM_000339
Location:3UTRS;EXON

Gene Symbol:SLC12A3
Accession:NM_001126108
Location:3UTRS;EXON

Gene Symbol:SLC12A3
Accession:NM_001126107
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:SLC12A3
Accession:NM_001410896
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000286726 CLINVAR
dbSNP (RS) rs886052166 CLINVAR
MedGen C0268450 CLINVAR
NCBI Gene SLC12A3 CLINVAR
OMIM 263800 CLINVAR
  600968 CLINVAR
SNOMED CT 3188003 CLINVAR