rs150000838 Rat Genome Database

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Variant: rs150000838 -  Homo sapiens

RGD ID: 28876717
RS ID: rs150000838
ClinVar ID: CV891597
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GFM1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 158,408,123
GRCh38 3 158,690,334
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001374361.1:c.1386+11T>G
NM_001374357.1:c.1845+11T>G
NM_024996.7:c.2070+11T>G
NM_001374359.1:c.1503+11T>G
More... 		12/03/2021 intron variant benign|likely benign Combined oxidative phosphorylation deficiency 1; HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GFM1
Accession:NM_001374355
Location:INTRON

Gene Symbol:GFM1
Accession:NM_001374361
Location:INTRON

Gene Symbol:GFM1
Accession:NM_024996
Location:INTRON

Gene Symbol:GFM1
Accession:NM_001374356
Location:INTRON

Gene Symbol:GFM1
Accession:NM_001374358
Location:INTRON

Gene Symbol:GFM1
Accession:NM_001374360
Location:INTRON

Gene Symbol:GFM1
Accession:NM_001308164
Location:INTRON

Gene Symbol:GFM1
Accession:NM_001374359
Location:INTRON

Gene Symbol:GFM1
Accession:NM_001308166
Location:INTRON

Gene Symbol:GFM1
Accession:NM_001374357
Location:INTRON

Gene Symbol:GFM1
Accession:NR_164499
Location:INTRON;NON-CODING

Gene Symbol:GFM1
Accession:NR_164502
Location:INTRON;NON-CODING

Gene Symbol:GFM1
Accession:NR_164500
Location:INTRON;NON-CODING

Gene Symbol:GFM1
Accession:NR_164501
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001148123 CLINVAR
  RCV001673019 CLINVAR
dbSNP (RS) rs150000838 CLINVAR
MedGen C1836797 CLINVAR
  C3661900 CLINVAR
NCBI Gene GFM1 CLINVAR
OMIM 606639 CLINVAR
  609060 CLINVAR