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Variant : CV414701 (NM_015560.2(OPA1):c.1198C>T (p.Pro400Ser)) Homo sapiens

Symbol: CV414701
Name: NM_015560.2(OPA1):c.1198C>T (p.Pro400Ser)
Condition: Mitochondrial diseases [RCV000508855]
Clinical Significance: pathogenic
Last Evaluated: 04/07/2017
Review Status: no assertion criteria provided
Related Genes: OPA1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_130833.2:c.1201C>T
LRG_337t1:c.1198C>T
LRG_337t2:c.1363C>T
NM_130837.2:c.1363C>T
LRG_337:g.55287C>T
NG_011605.1:g.55287C>T
NC_000003.12:g.193643430C>T
NC_000003.11:g.193361219C>T
LRG_337p1:p.Pro400Ser
LRG_337p2:p.Pro455Ser
NP_056375.2:p.Pro400Ser
NP_570850.2:p.Pro455Ser
NM_015560.2:c.1198C>T
NM_130834.3:c.1252C>T
NM_130835.2:c.1255C>T
NM_130836.3:c.1309C>T
NM_001354664.2:c.826C>T
NM_001354663.2:c.829C>T
NM_130831.3:c.1090C>T
NM_130832.3:c.1144C>T
NP_001341593.1:p.Pro276Ser
NP_570845.1:p.Pro382Ser
NP_570846.1:p.Pro401Ser
NP_570847.2:p.Pro418Ser
NP_570848.1:p.Pro419Ser
NP_001341592.1:p.Pro277Ser
NP_570844.1:p.Pro364Ser
NP_570849.2:p.Pro437Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,643,430 - 193,643,430CLINVAR
GRCh373193,361,219 - 193,361,219CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: Mitochondrial disease



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13437477
Created: 2017-10-10
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.