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Variant : CV142273 (NM_015560.2(OPA1):c.2715A>G (p.Arg905=)) Homo sapiens

Symbol: CV142273
Name: NM_015560.2(OPA1):c.2715A>G (p.Arg905=)
Condition: not provided [RCV000676701]|not specified [RCV000127284]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 02/29/2016
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: OPA1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_337t1:c.2715A>G
LRG_337t2:c.2880A>G
LRG_337:g.79034A>G
NG_011605.1:g.79034A>G
NC_000003.12:g.193667177A>G
NC_000003.11:g.193384966A>G
LRG_337p1:p.Arg905=
LRG_337p2:p.Arg960=
NP_056375.2:p.Arg905=
NP_570850.2:p.Arg960=
p.R905R
NM_015560.2:c.2715A>G
NM_130837.2:c.2880A>G
NP_570846.1:p.Arg906=
NP_570847.2:p.Arg923=
NP_570848.1:p.Arg924=
NP_570849.2:p.Arg942=
NM_001354664.2:c.2343A>G
NM_001354663.2:c.2346A>G
NM_130831.3:c.2607A>G
NM_130832.3:c.2661A>G
NM_130833.2:c.2718A>G
NM_130834.3:c.2769A>G
NM_130835.2:c.2772A>G
NM_130836.3:c.2826A>G
NP_001341593.1:p.Arg781=
NP_001341592.1:p.Arg782=
NP_570844.1:p.Arg869=
NP_570845.1:p.Arg887=
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,667,177 - 193,667,177CLINVAR
GRCh373193,384,966 - 193,384,966CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8692304
Created: 2014-07-08
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.