RGD:9682896 Rat Genome Database

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Variant: RGD:9682896 -  Homo sapiens

RGD ID: 9682896
RS ID: rs587783843
ClinVar ID: CV169956
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTM1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 149,761,140
GRCh38 X 150,592,678
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.29094G>A
NC_000023.11:g.150592678G>A
NC_000023.10:g.149761140G>A
LRG_839t1:c.63+1G>A
More... 		02/08/2013 splice donor variant 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:NM_001376908
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442136
Location:INTRON

Gene Symbol:MTM1
Accession:XM_017029548
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442133
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442135
Location:INTRON

Gene Symbol:MTM1
Accession:XM_017029547
Location:INTRON

Gene Symbol:MTM1
Accession:XM_017029551
Location:INTRON

Gene Symbol:MTM1
Accession:NM_001376907
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442132
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442134
Location:INTRON

Gene Symbol:MTM1
Accession:NM_000252
Location:INTRON

Gene Symbol:MTM1
Accession:NM_001376906
Location:INTRON

Gene Symbol:MTM1
Accession:XM_011531171
Location:INTRON

Gene Symbol:MTM1
Accession:XM_011531172
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442137
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000146468 CLINVAR
dbSNP (RS) rs587783843 CLINVAR
MedGen C0410203 CLINVAR
NCBI Gene MTM1 CLINVAR
OMIM 300415 CLINVAR
  310400 CLINVAR
SNOMED CT 46804001 CLINVAR