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Variant : CV294185 (NM_015560.2(OPA1):c.852G>A (p.Thr284=)) Homo sapiens

Symbol: CV294185
Name: NM_015560.2(OPA1):c.852G>A (p.Thr284=)
Condition: Optic Atrophy, Dominant [RCV000364856]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: OPA1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_130833.2:c.855G>A
NM_130834.3:c.906G>A
NP_570844.1:p.Thr248=
NP_570845.1:p.Thr266=
LRG_337t2:c.1017G>A
LRG_337t1:c.852G>A
NM_130837.2:c.1017G>A
LRG_337:g.49120G>A
NG_011605.1:g.49120G>A
NC_000003.12:g.193637263G>A
NC_000003.11:g.193355052G>A
LRG_337p1:p.Thr284=
LRG_337p2:p.Thr339=
NP_056375.2:p.Thr284=
NP_570850.2:p.Thr339=
NM_015560.2:c.852G>A
NM_001354664.2:c.480G>A
NM_001354663.2:c.483G>A
NM_130831.3:c.744G>A
NM_130832.3:c.798G>A
NM_130835.2:c.909G>A
NM_130836.3:c.963G>A
NP_001341593.1:p.Thr160=
NP_570849.2:p.Thr321=
NP_001341592.1:p.Thr161=
NP_570846.1:p.Thr285=
NP_570847.2:p.Thr302=
NP_570848.1:p.Thr303=
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,637,263 - 193,637,263CLINVAR
GRCh373193,355,052 - 193,355,052CLINVAR
Cytogenetic Map33q29CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11594924
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.