RGD:13536972 Rat Genome Database

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Variant: RGD:13536972 -  Homo sapiens

RGD ID: 13536972
RS ID: rs201990339
ClinVar ID: CV502049
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTO1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 74,192,359
GRCh38 6 73,482,636
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.73482636A>G
NC_000006.11:g.74192359A>G
NM_012123.4:c.1637+16A>G
NG_032856.2:g.25906A>G
More... 		12/11/2021 intron variant benign|likely benign AllHighlyPenetrant; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS; Combined oxidative phosphorylation deficiency 10
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MTO1
Accession:NM_133645
Location:INTRON

Gene Symbol:MTO1
Accession:NM_001123226
Location:INTRON

Gene Symbol:MTO1
Accession:NM_012123
Location:INTRON

Gene Symbol:MTO1
Accession:XM_047418606
Location:INTRON

Gene Symbol:MTO1
Accession:XM_047418605
Location:INTRON

Gene Symbol:MTO1
Accession:XM_047418607
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000609743 CLINVAR
  RCV002064099 CLINVAR
dbSNP (RS) rs201990339 CLINVAR
MedGen C4749921 CLINVAR
  CN169374 CLINVAR
NCBI Gene MTO1 CLINVAR
OMIM 614667 CLINVAR
  614702 CLINVAR