RGD:9693149 Rat Genome Database

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Variant: RGD:9693149 -  Homo sapiens

RGD ID: 9693149
RS ID: rs727504059
ClinVar ID: CV177897
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OPA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 193,355,071
GRCh38 3 193,637,282
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_337t1:c.870+1G>A
LRG_337:g.49139G>A
NG_011605.1:g.49139G>A
NC_000003.12:g.193637282G>A
More... 		07/01/2021 splice donor variant pathogenic childhood none provided

Variant Details
Variant Transcripts
Gene Symbol:OPA1
Accession:NM_130831
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448212
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448213
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448214
Location:INTRON

Gene Symbol:OPA1
Accession:NM_001354664
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130834
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130833
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448207
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130837
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130835
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130832
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448209
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448208
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448206
Location:INTRON

Gene Symbol:OPA1
Accession:NM_015560
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448211
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448216
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448210
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130836
Location:INTRON

Gene Symbol:OPA1
Accession:NM_001354663
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000180336 CLINVAR
  RCV000578471 CLINVAR
dbSNP (RS) rs727504059 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene OPA1 CLINVAR
OMIM 605290 CLINVAR