RGD:28884891 Rat Genome Database

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Variant: RGD:28884891 -  Homo sapiens

RGD ID: 28884891
RS ID: rs750071268
ClinVar ID: CV903428
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPM6  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 77,390,786
GRCh38 9 74,775,870
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001177310.2:c.3388+13A>G
NM_001177311.2:c.3388+13A>G
NC_000009.12:g.74775870T>C
NC_000009.11:g.77390786T>C
More... 		06/16/2022 intron variant likely benign|uncertain significance HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA; HYPOMAGNESEMIC TETANY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRPM6
Accession:NM_017662
Location:INTRON

Gene Symbol:TRPM6
Accession:NM_001177310
Location:INTRON

Gene Symbol:TRPM6
Accession:NM_001177311
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001168613 CLINVAR
  RCV002558670 CLINVAR
dbSNP (RS) rs750071268 CLINVAR
MedGen C1865974 CLINVAR
  C3661900 CLINVAR
NCBI Gene TRPM6 CLINVAR
OMIM 602014 CLINVAR
  607009 CLINVAR