RGD:11660098 Rat Genome Database

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Variant: RGD:11660098 -  Homo sapiens

RGD ID: 11660098
RS ID: rs886044840
ClinVar ID: CV269483
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTM1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 149,787,613
GRCh38 X 150,619,140
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
LRG_839:g.55567G>A
NG_008199.1:g.55567G>A
NC_000023.11:g.150619140G>A
NC_000023.10:g.149787613G>A
More... 		12/16/2015 splice donor variant pathogenic antenatal xlmtm is an x-linked condition that occurs in 1 in 50,000 male live births none provided

Variant Details
Variant Transcripts
Gene Symbol:MTM1
Accession:NM_000252
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442134
Location:INTRON

Gene Symbol:MTM1
Accession:NM_001376907
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442137
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442135
Location:INTRON

Gene Symbol:MTM1
Accession:XM_011531172
Location:INTRON

Gene Symbol:MTM1
Accession:XM_017029551
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442132
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442133
Location:INTRON

Gene Symbol:MTM1
Accession:XM_011531171
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442136
Location:INTRON

Gene Symbol:MTM1
Accession:XM_017029548
Location:INTRON

Gene Symbol:MTM1
Accession:NM_001376906
Location:INTRON

Gene Symbol:MTM1
Accession:XM_017029547
Location:INTRON

Gene Symbol:MTM1
Accession:NM_001376908
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000364200 CLINVAR
dbSNP (RS) rs886044840 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene MTM1 CLINVAR
OMIM 300415 CLINVAR