RGD:14745436 Rat Genome Database

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Variant: RGD:14745436 -  Homo sapiens

RGD ID: 14745436
RS ID: rs147799230
ClinVar ID: CV669864
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTM1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 149,826,740
GRCh38 X 150,658,267
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000252.2:c.1260+240A>G
NM_001376907.1:c.1149+240A>G
NM_001376908.1:c.1260+240A>G
NM_000252.3:c.1260+240A>G
More... 		06/18/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MTM1
Accession:XM_047442137
Location:INTRON

Gene Symbol:MTM1
Accession:XM_011531171
Location:INTRON

Gene Symbol:MTM1
Accession:XM_017029547
Location:INTRON

Gene Symbol:MTM1
Accession:NM_001376906
Location:INTRON

Gene Symbol:MTM1
Accession:XM_011531172
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442132
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442135
Location:INTRON

Gene Symbol:MTM1
Accession:NM_001376907
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442134
Location:INTRON

Gene Symbol:MTM1
Accession:XM_017029551
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442136
Location:INTRON

Gene Symbol:MTM1
Accession:XM_047442133
Location:INTRON

Gene Symbol:MTM1
Accession:NM_001376908
Location:INTRON

Gene Symbol:MTM1
Accession:NM_000252
Location:INTRON

Gene Symbol:MTM1
Accession:XM_017029548
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000843369 CLINVAR
dbSNP (RS) rs147799230 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MTM1 CLINVAR
OMIM 300415 CLINVAR