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Variant : CV101625 (NM_015560.2(OPA1):c.557-19T>C) Homo sapiens

Symbol: CV101625
Name: NM_015560.2(OPA1):c.557-19T>C
Condition: AllHighlyPenetrant [RCV000081769]|not provided [RCV000127274]|not specified [RCV000081769]
Clinical Significance: benign
Last Evaluated: 12/23/2015
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: OPA1   OPA1-AS1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|non-coding transcript variant|intron variant
Evidence: clinical testing
HGVS Name(s): LRG_337t1:c.557-19T>C
LRG_337t2:c.611-19T>C
NM_015560.2:c.557-19T>C
NM_130837.2:c.611-19T>C
LRG_337:g.30707T>C
NG_011605.1:g.30707T>C
NC_000003.12:g.193618850T>C
NC_000003.11:g.193336639T>C
NM_015560.1:c.557-19T>C
NM_001354664.2:c.185-19T>C
NM_130831.3:c.449-19T>C
NM_130833.2:c.449-19T>C
NM_130832.3:c.503-19T>C
NM_130835.2:c.503-19T>C
NM_130836.3:c.557-19T>C
NM_130834.3:c.611-19T>C
NM_001354663.2:c.77-19T>C
NR_046634.1:n.251A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,618,850 - 193,618,850CLINVAR
GRCh373193,336,639 - 193,336,639CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8642641
Created: 2014-05-13
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.