RGD:13536401 Rat Genome Database

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Variant: RGD:13536401 -  Homo sapiens

RGD ID: 13536401
RS ID: rs371239013
ClinVar ID: CV508517
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTM1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 149,814,361
GRCh38 X 150,645,888
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_839t1:c.867+17A>G
LRG_839:g.82315A>G
NG_008199.1:g.82315A>G
NC_000023.11:g.150645888A>G
More... 		12/14/2021 intron variant benign|likely benign AllHighlyPenetrant; 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:NM_001376907
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442133
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442134
Location:INTRON

Gene Symbol:MTM1
Accession:XM_011531172
Location:INTRON

Gene Symbol:MTM1
Accession:XM_017029548
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442135
Location:INTRON

Gene Symbol:MTM1
Accession:XM_017029547
Location:INTRON

Gene Symbol:MTM1
Accession:NM_000252
Location:INTRON

Gene Symbol:MTM1
Accession:NM_001376906
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442137
Location:INTRON

Gene Symbol:MTM1
Accession:XM_017029551
Location:INTRON

Gene Symbol:MTM1
Accession:XM_011531171
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442132
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000608943 CLINVAR
  RCV002064323 CLINVAR
dbSNP (RS) rs371239013 CLINVAR
MedGen C0410203 CLINVAR
  CN169374 CLINVAR
NCBI Gene MTM1 CLINVAR
OMIM 300415 CLINVAR
  310400 CLINVAR
SNOMED CT 46804001 CLINVAR