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Variant : CV440773 (NM_015560.2(OPA1):c.1462G>A (p.Gly488Arg)) Homo sapiens

Symbol: CV440773
Name: NM_015560.2(OPA1):c.1462G>A (p.Gly488Arg)
Condition: not provided [RCV000516363]
Clinical Significance: likely pathogenic
Last Evaluated: 12/16/2016
Review Status: 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): NM_001354664.2:c.1090G>A
NM_001354663.2:c.1093G>A
NM_130831.3:c.1354G>A
NM_130832.3:c.1408G>A
NM_130833.2:c.1465G>A
LRG_337t1:c.1462G>A
NM_130837.2:c.1627G>A
LRG_337t2:c.1627G>A
NG_011605.1:g.57428G>A
NP_570850.2:p.Gly543Arg
LRG_337p2:p.Gly543Arg
NP_056375.2:p.Gly488Arg
NC_000003.11:g.193363360G>A
LRG_337p1:p.Gly488Arg
LRG_337:g.57428G>A
NC_000003.12:g.193645571G>A
p.GLY488ARG
NM_130834.3:c.1516G>A
NM_130835.2:c.1519G>A
NM_130836.3:c.1573G>A
NP_001341593.1:p.Gly364Arg
NP_001341592.1:p.Gly365Arg
NP_570844.1:p.Gly452Arg
NP_570845.1:p.Gly470Arg
NP_570846.1:p.Gly489Arg
NP_570847.2:p.Gly506Arg
NP_570848.1:p.Gly507Arg
NP_570849.2:p.Gly525Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,645,571 - 193,645,571CLINVAR
GRCh373193,363,360 - 193,363,360CLINVAR
Cytogenetic Map33q29CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13469761
Created: 2018-01-09
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.