RGD:14701167 Rat Genome Database

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Variant: RGD:14701167 -  Homo sapiens

RGD ID: 14701167
RS ID: rs772693650
ClinVar ID: CV644549
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP2A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 28,898,594
GRCh38 16 28,887,273
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_173201.5:c.629C>T
NM_001286075.2:c.254C>T
NP_004311.1:p.Ser210Leu
NP_001273004.1:p.Ser85Leu
More... 		09/24/2018 missense variant uncertain significance BRODY DISEASE
Disease Annotations     Click to see Annotation Detail View
Brody myopathy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:ATP2A1
Accession:NM_173201
Location:EXON

Gene Symbol:ATP2A1
Accession:NM_004320
Location:EXON

Gene Symbol:ATP2A1
Accession:NM_001286075
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000814449 CLINVAR
dbSNP (RS) rs772693650 CLINVAR
MedGen C1832918 CLINVAR
NCBI Gene ATP2A1 CLINVAR
OMIM 108730 CLINVAR
  601003 CLINVAR
SNOMED CT 703530005 CLINVAR