RGD:8562125 Rat Genome Database

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Variant: RGD:8562125 -  Homo sapiens

RGD ID: 8562125
RS ID: rs672601324
ClinVar ID: CV26095
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTM1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 149,814,155
GRCh38 X 150,645,682
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008199.1:g.82109G>A
NC_000023.11:g.150645682G>A
NC_000023.10:g.149814155G>A
LRG_839t1:c.679-1G>A
More... 		05/25/2019 splice acceptor variant pathogenic|likely pathogenic antenatal|neonatal/infancy xlmtm is an x-linked condition that occurs in 1 in 50,000 male live births MYOTUBULAR MYOPATHY 1; Myotubular myopathy, X-linked; X-linked centronuclear myopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MTM1
Accession:XM_017029551
Location:5UTRS;INTRON

Gene Symbol:MTM1
Accession:XM_011531172
Location:INTRON

Gene Symbol:MTM1
Accession:XM_011531171
Location:INTRON

Gene Symbol:MTM1
Accession:XM_017029547
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442134
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442137
Location:INTRON

Gene Symbol:MTM1
Accession:NM_001376906
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442132
Location:INTRON

Gene Symbol:MTM1
Accession:NM_000252
Location:INTRON

Gene Symbol:MTM1
Accession:XM_017029548
Location:INTRON

Gene Symbol:MTM1
Accession:NM_001376907
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442136
Location:INTRON

Gene Symbol:MTM1
Accession:NM_001376908
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442133
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442135
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9305655   PMID:9450905   PMID:10063835   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011805 CLINVAR
dbSNP (RS) rs672601324 CLINVAR
MedGen C0410203 CLINVAR
NCBI Gene MTM1 CLINVAR
OMIM 300415 CLINVAR
  310400 CLINVAR
OMIM Allele 300415.0004 CLINVAR
SNOMED CT 46804001 CLINVAR