rs544136408 Rat Genome Database

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Variant: rs544136408 -  Homo sapiens

RGD ID: 15109535
RS ID: rs544136408
ClinVar ID: CV779071
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYOT  PKD2L2-DT  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 137,222,898
GRCh38 5 137,887,209
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_006790.3:c.1325-4T>A
NM_001135940.2:c.773-4T>A
NM_001300911.2:c.980-4T>A
NG_008894.1:g.24354T>A
More... 		01/02/2024 intron variant benign Autosomal dominant spheroid body myopathy; Limb-girdle muscular dystrophy, type 1A; Muscular dystrophy, proximal, type 1A; Spheroid body myopathy
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV779071Humanmyofibrillar myopathy 3  IAGP 8554872ClinVar Annotator: match by term: Myofibrillar myopathy 3ClinVarPMID:28492532
Gene Symbol:MYOT
Accession:NM_001300911
Location:INTRON

Gene Symbol:MYOT
Accession:NM_006790
Location:INTRON

Gene Symbol:MYOT
Accession:NM_001135940
Location:INTRON

Gene Symbol:MYOT
Accession:XM_017010061
Location:INTRON

Gene Symbol:PKD2L2-DT
Accession:XR_948815
Location:INTRON;NON-CODING

Gene Symbol:PKD2L2-DT
Accession:XR_007058950
Location:INTRON;NON-CODING

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV000960718 CLINVAR
dbSNP (RS) rs544136408 CLINVAR
MedGen C3714934 CLINVAR
NCBI Gene MYOT CLINVAR
  PKD2L2-DT CLINVAR
OMIM 159000 CLINVAR
  604103 CLINVAR
  609200 CLINVAR