RGD:8642631 Rat Genome Database

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Variant: RGD:8642631 -  Homo sapiens

RGD ID: 8642631
RS ID: rs77355463
ClinVar ID: CV101615
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC102724808  OPA1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 193,376,657
GRCh38 3 193,658,868
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_337t1:c.2167-19C>A
LRG_337:g.70725C>A
NG_011605.1:g.70725C>A
NC_000003.12:g.193658868C>A
More... 		11/11/2020 intron|intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:OPA1
Accession:NM_130833
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448211
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130836
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130837
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448212
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448213
Location:INTRON

Gene Symbol:OPA1
Accession:NM_001354663
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448214
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130832
Location:INTRON

Gene Symbol:OPA1
Accession:NM_001354664
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448209
Location:INTRON

Gene Symbol:OPA1
Accession:NM_015560
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448206
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130831
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448216
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130834
Location:INTRON

Gene Symbol:OPA1
Accession:NM_130835
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448208
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448207
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448210
Location:INTRON

Gene Symbol:LOC102724808
Accession:XR_924835
Location:INTRON;NON-CODING

Gene Symbol:LOC102724808
Accession:XR_924836
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000081758 CLINVAR
  RCV001513067 CLINVAR
dbSNP (RS) rs77355463 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene OPA1 CLINVAR
OMIM 605290 CLINVAR