RGD:11593706 Rat Genome Database

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Variant: RGD:11593706 -  Homo sapiens

RGD ID: 11593706
RS ID: rs570796106
ClinVar ID: CV290542
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OPA1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 193,414,204
GRCh38 3 193,696,415
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_337t1:c.*1815T>C
LRG_337:g.108272T>C
NG_011605.1:g.108272T>C
NC_000003.12:g.193696415T>C
More... 		01/13/2018 3 prime utr variant uncertain significance Kjer-type optic atrophy; Optic Atrophy Type 1; Optic atrophy, juvenile
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OPA1
Accession:NM_130836
Location:3UTRS;EXON

Gene Symbol:OPA1
Accession:NM_130832
Location:3UTRS;EXON

Gene Symbol:OPA1
Accession:NM_130834
Location:3UTRS;EXON

Gene Symbol:OPA1
Accession:NM_130831
Location:3UTRS;EXON

Gene Symbol:OPA1
Accession:NM_001354664
Location:3UTRS;EXON

Gene Symbol:OPA1
Accession:NM_001354663
Location:3UTRS;EXON

Gene Symbol:OPA1
Accession:NM_130835
Location:3UTRS;EXON

Gene Symbol:OPA1
Accession:NM_130833
Location:3UTRS;EXON

Gene Symbol:OPA1
Accession:XM_047448216
Location:3UTRS;EXON

Gene Symbol:OPA1
Accession:NM_130837
Location:3UTRS;EXON

Gene Symbol:OPA1
Accession:NM_015560
Location:3UTRS;EXON

Gene Symbol:OPA1
Accession:XM_047448212
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448209
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448210
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448214
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448208
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448207
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448213
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448206
Location:INTRON

Gene Symbol:OPA1
Accession:XM_047448211
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000351531 CLINVAR
dbSNP (RS) rs570796106 CLINVAR
MedGen C0338508 CLINVAR
NCBI Gene OPA1 CLINVAR
OMIM 165500 CLINVAR
  605290 CLINVAR
SNOMED CT 717336005 CLINVAR