rs886058119 Rat Genome Database

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Variant: rs886058119 -  Homo sapiens

RGD ID: 11651951
RS ID: rs886058119
ClinVar ID: CV293531
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GFM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 158,362,509
GRCh38 3 158,644,720
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024996.5:c.81+5C>T
NG_008441.1:g.5193C>T
NC_000003.12:g.158644720C>T
NC_000003.11:g.158362509C>T
More... 		01/13/2018 5 prime utr variant|intron variant uncertain significance Combined oxidative phosphorylation deficiency 1; HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GFM1
Accession:NM_001374357
Location:5UTRS;EXON

Gene Symbol:GFM1
Accession:NM_001374361
Location:5UTRS;INTRON

Gene Symbol:GFM1
Accession:NM_001374360
Location:5UTRS;INTRON

Gene Symbol:GFM1
Accession:NM_001374359
Location:5UTRS;INTRON

Gene Symbol:GFM1
Accession:NM_001374356
Location:INTRON

Gene Symbol:GFM1
Accession:NM_001374358
Location:INTRON

Gene Symbol:GFM1
Accession:NM_024996
Location:INTRON

Gene Symbol:GFM1
Accession:NM_001308164
Location:INTRON

Gene Symbol:GFM1
Accession:NM_001374355
Location:INTRON

Gene Symbol:GFM1
Accession:NM_001308166
Location:INTRON

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000301848 CLINVAR
dbSNP (RS) rs886058119 CLINVAR
MedGen C1836797 CLINVAR
NCBI Gene GFM1 CLINVAR
OMIM 606639 CLINVAR
  609060 CLINVAR