RGD:8642641 Rat Genome Database

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Variant: RGD:8642641 -  Homo sapiens

RGD ID: 8642641
RS ID: rs3772393
ClinVar ID: CV101625
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OPA1  OPA1-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 193,336,639
GRCh38 3 193,618,850
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_337t1:c.557-19T>C
LRG_337t2:c.611-19T>C
LRG_337:g.30707T>C
NG_011605.1:g.30707T>C
More... 		12/04/2020 intron|intron variant|non-coding transcript variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:OPA1-AS1
Accession:NR_046634
Location:EXON;NON-CODING

Gene Symbol:OPA1
Accession:XM_047448216
Location:INTRON

Gene Symbol:OPA1
Accession:NM_001354664
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130834
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448207
Location:INTRON

Gene Symbol:OPA1
Accession:NM_015560
Location:INTRON

Gene Symbol:OPA1
Accession:NM_001354663
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448206
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130833
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448211
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448214
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130837
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130831
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448208
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448209
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448212
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448210
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130836
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130835
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130832
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448213
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000081769 CLINVAR
  RCV001518240 CLINVAR
dbSNP (RS) rs3772393 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene OPA1 CLINVAR
  OPA1-AS1 CLINVAR
OMIM 605290 CLINVAR