RGD:156173384 Rat Genome Database

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Variant: RGD:156173384 -  Homo sapiens

RGD ID: 156173384
ClinVar ID: CV2037917
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FXYD2  FXYD6-FXYD2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 117,691,569
GRCh38 11 117,820,854
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001243598.4:c.*9+5G>C
NM_021603.4:c.170+5G>C
NM_001680.5:c.176+5G>C
NM_001204268.3:c.410+5G>C
More... 		07/13/2022 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FXYD6-FXYD2
Accession:NM_001243598
Location:3UTRS;INTRON

Gene Symbol:FXYD6-FXYD2
Accession:NM_001204268
Location:INTRON

Gene Symbol:FXYD2
Accession:NM_001680
Location:INTRON

Gene Symbol:FXYD2
Accession:NM_021603
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002741928 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FXYD2 CLINVAR
  FXYD6-FXYD2 CLINVAR
OMIM 601814 CLINVAR