RGD:405035831 Rat Genome Database

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Variant: RGD:405035831 -  Homo sapiens

RGD ID: 405035831
ClinVar ID: CV3140509
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127460711  TOP1MT  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 144,403,565
GRCh38 8 143,321,395
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001258446.1:c.667-9A>C
NM_001258447.1:c.667-9A>C
NM_052963.3:c.961-9A>C
NG_115480.1:g.429T>G
More... 		04/13/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TOP1MT
Accession:NM_052963
Location:INTRON

Gene Symbol:TOP1MT
Accession:NM_001258447
Location:INTRON

Gene Symbol:TOP1MT
Accession:NM_001258446
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_005250781
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421333
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421346
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421334
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421336
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421339
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421330
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421342
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421332
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421338
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421344
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421340
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421335
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421341
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421331
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421343
Location:INTRON

Gene Symbol:TOP1MT
Accession:XM_047421345
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003830991 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TOP1MT CLINVAR
OMIM 606387 CLINVAR