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Variant : CV193057 (NM_015560.2(OPA1):c.2569C>T (p.Arg857Ter)) Homo sapiens

Symbol: CV193057
Name: NM_015560.2(OPA1):c.2569C>T (p.Arg857Ter)
Condition: Dominant hereditary optic atrophy [RCV000176576]|not provided [RCV000199431]
Clinical Significance: pathogenic
Last Evaluated: 12/08/2014
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: OPA1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): LRG_337t1:c.2569C>T
LRG_337t2:c.2734C>T
NM_130837.2:c.2734C>T
LRG_337:g.76809C>T
NG_011605.1:g.76809C>T
NC_000003.12:g.193664952C>T
NC_000003.11:g.193382741C>T
LRG_337p1:p.Arg857Ter
LRG_337p2:p.Arg912Ter
NP_056375.2:p.Arg857Ter
NP_570850.2:p.Arg912Ter
p.R857*
NM_130831.1:c.2461C>T
NP_570844.1:p.Arg821Ter
NM_015560.2:c.2569C>T
NM_130831.3:c.2461C>T
NM_130832.3:c.2515C>T
NP_001341593.1:p.Arg733Ter
NP_001341592.1:p.Arg734Ter
NP_570845.1:p.Arg839Ter
NP_570846.1:p.Arg858Ter
NP_570847.2:p.Arg875Ter
NP_570848.1:p.Arg876Ter
NP_570849.2:p.Arg894Ter
NM_001354664.2:c.2197C>T
NM_130836.3:c.2680C>T
NM_001354663.2:c.2200C>T
NM_130835.2:c.2626C>T
NM_130833.2:c.2572C>T
NM_130834.3:c.2623C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,664,952 - 193,664,952CLINVAR
GRCh373193,382,741 - 193,382,741CLINVAR
Cytogenetic Map33q29CLINVAR
Age Of Onset: childhood



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10048354
Created: 2015-07-14
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.