RGD:405139252 Rat Genome Database

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Variant: RGD:405139252 -  Homo sapiens

RGD ID: 405139252
ClinVar ID: CV3080669
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTM1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 149,818,388
GRCh38 X 150,649,915
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000252.3:c.1053+14G>T
NM_001376906.1:c.1053+14G>T
NM_001376908.1:c.1053+14G>T
NM_001376907.1:c.942+14G>T
More... 		05/02/2023 intron variant likely benign MYOTUBULAR MYOPATHY 1; Myotubular myopathy, X-linked; X-linked centronuclear myopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003619139 CLINVAR
MedGen C0410203 CLINVAR
NCBI Gene MTM1 CLINVAR
OMIM 300415 CLINVAR
  310400 CLINVAR
SNOMED CT 46804001 CLINVAR