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Variant : CV440772 (NM_015560.2(OPA1):c.1412T>C (p.Leu471Pro)) Homo sapiens

Symbol: CV440772
Name: NM_015560.2(OPA1):c.1412T>C (p.Leu471Pro)
Condition: not specified [RCV000517949]
Clinical Significance: uncertain significance
Last Evaluated: 10/12/2016
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): NP_570844.1:p.Leu435Pro
NP_570845.1:p.Leu453Pro
NP_570846.1:p.Leu472Pro
NP_570847.2:p.Leu489Pro
NP_570849.2:p.Leu508Pro
LRG_337t1:c.1412T>C
LRG_337t2:c.1577T>C
NM_130837.2:c.1577T>C
LRG_337:g.55931T>C
NG_011605.1:g.55931T>C
NC_000003.12:g.193644074T>C
NC_000003.11:g.193361863T>C
p.LEU471PRO
LRG_337p1:p.Leu471Pro
LRG_337p2:p.Leu526Pro
NP_056375.2:p.Leu471Pro
NP_570850.2:p.Leu526Pro
NM_015560.2:c.1412T>C
NM_001354664.2:c.1040T>C
NM_001354663.2:c.1043T>C
NM_130831.3:c.1304T>C
NM_130832.3:c.1358T>C
NM_130833.2:c.1415T>C
NM_130834.3:c.1466T>C
NM_130835.2:c.1469T>C
NM_130836.3:c.1523T>C
NP_001341593.1:p.Leu347Pro
NP_570848.1:p.Leu490Pro
NP_001341592.1:p.Leu348Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,644,074 - 193,644,074CLINVAR
GRCh373193,361,863 - 193,361,863CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13482714
Created: 2018-01-09
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.