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Variant : CV440774 (NM_015560.2(OPA1):c.1501G>A (p.Val501Ile)) Homo sapiens

Symbol: CV440774
Name: NM_015560.2(OPA1):c.1501G>A (p.Val501Ile)
Condition: not specified [RCV000517455]
Clinical Significance: uncertain significance
Last Evaluated: 04/06/2017
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.1129G>A
NM_130832.3:c.1447G>A
NM_130836.3:c.1612G>A
NP_570845.1:p.Val483Ile
NM_001354663.2:c.1132G>A
NP_001341593.1:p.Val377Ile
LRG_337t1:c.1501G>A
NM_130837.2:c.1666G>A
NC_000003.12:g.193645610G>A
NC_000003.11:g.193363399G>A
p.VAL501ILE
LRG_337p1:p.Val501Ile
LRG_337p2:p.Val556Ile
NP_056375.2:p.Val501Ile
LRG_337:g.57467G>A
NP_570850.2:p.Val556Ile
LRG_337t2:c.1666G>A
NG_011605.1:g.57467G>A
NM_015560.2:c.1501G>A
NM_130831.3:c.1393G>A
NM_130833.2:c.1504G>A
NM_130834.3:c.1555G>A
NM_130835.2:c.1558G>A
NP_001341592.1:p.Val378Ile
NP_570844.1:p.Val465Ile
NP_570846.1:p.Val502Ile
NP_570847.2:p.Val519Ile
NP_570848.1:p.Val520Ile
NP_570849.2:p.Val538Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,645,610 - 193,645,610CLINVAR
GRCh373193,363,399 - 193,363,399CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13481034
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.