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Variant : CV211006 (NM_015560.2(OPA1):c.2564T>G (p.Leu855Arg)) Homo sapiens

Symbol: CV211006
Name: NM_015560.2(OPA1):c.2564T>G (p.Leu855Arg)
Condition: not provided [RCV000729362]|not specified [RCV000196852]
Clinical Significance: uncertain significance
Last Evaluated: 09/28/2017
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: OPA1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_337t1:c.2564T>G
LRG_337t2:c.2729T>G
NM_130837.2:c.2729T>G
LRG_337:g.76804T>G
NG_011605.1:g.76804T>G
NC_000003.12:g.193664947T>G
NC_000003.11:g.193382736T>G
p.L855R
LRG_337p1:p.Leu855Arg
LRG_337p2:p.Leu910Arg
NP_056375.2:p.Leu855Arg
NP_570850.2:p.Leu910Arg
NM_001354663.2:c.2195T>G
NM_001354664.2:c.2192T>G
NM_130835.2:c.2621T>G
NM_130836.3:c.2675T>G
NP_001341593.1:p.Leu731Arg
NP_001341592.1:p.Leu732Arg
NP_570844.1:p.Leu819Arg
NP_570845.1:p.Leu837Arg
NP_570847.2:p.Leu873Arg
NP_570848.1:p.Leu874Arg
NP_570849.2:p.Leu892Arg
NM_130831.3:c.2456T>G
NM_130832.3:c.2510T>G
NM_130833.2:c.2567T>G
NM_130834.3:c.2618T>G
NP_570846.1:p.Leu856Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,664,947 - 193,664,947CLINVAR
GRCh373193,382,736 - 193,382,736CLINVAR
Cytogenetic Map33q29CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10409784
Created: 2015-11-10
Species: Homo sapiens
Last Modified: 2019-11-12
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.