RGD:405058752 Rat Genome Database

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Variant: RGD:405058752 -  Homo sapiens

RGD ID: 405058752
ClinVar ID: CV3004545
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP2A1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 28,895,988
GRCh38 16 28,884,667
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286075.2:c.169+12T>G
NM_004320.6:c.544+12T>G
NM_173201.5:c.544+12T>G
NG_023327.1:g.11180T>G
More... 		03/10/2023 intron variant likely benign BRODY DISEASE
Disease Annotations     Click to see Annotation Detail View
Brody myopathy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:ATP2A1
Accession:NM_004320
Location:INTRON

Gene Symbol:ATP2A1
Accession:NM_173201
Location:INTRON

Gene Symbol:ATP2A1
Accession:NM_001286075
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003632022 CLINVAR
MedGen C1832918 CLINVAR
NCBI Gene ATP2A1 CLINVAR
OMIM 108730 CLINVAR
  601003 CLINVAR
SNOMED CT 703530005 CLINVAR