Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV102149 (NM_015560.2(OPA1):c.625-5528C>T) Homo sapiens

Symbol: CV102149
Name: NM_015560.2(OPA1):c.625-5528C>T
Condition: AllHighlyPenetrant [RCV000082341]|not specified [RCV000082341]
Clinical Significance: benign
Last Evaluated: 07/14/2014
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|intron variant
Evidence: clinical testing
HGVS Name(s): LRG_337t1:c.625-5528C>T
LRG_337t2:c.679-8C>T
NM_015560.2:c.625-5528C>T
NM_130837.2:c.679-8C>T
LRG_337:g.37941C>T
NG_011605.1:g.37941C>T
NC_000003.12:g.193626084C>T
NC_000003.11:g.193343873C>T
NM_130837.1:c.679-8C>T
NM_130832.3:c.571-5528C>T
NM_001354663.2:c.145-8C>T
NM_001354664.2:c.253-5528C>T
NM_130831.3:c.517-5528C>T
NM_130833.2:c.517-8C>T
NM_130835.2:c.571-8C>T
NM_130836.3:c.625-8C>T
NM_130834.3:c.679-5528C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,626,084 - 193,626,084CLINVAR
GRCh373193,343,873 - 193,343,873CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8643166
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.