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Variant : CV657038 (NM_014874.3(MFN2):c.600-247G>A) Homo sapiens

Symbol: CV657038
Name: NM_014874.3(MFN2):c.600-247G>A
Condition: not provided [RCV000837372]
Clinical Significance: benign
Last Evaluated: 06/16/2018
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001127660.1:c.600-247G>A
NM_014874.3:c.600-247G>A
NG_007945.1:g.23343G>A
NC_000001.11:g.11998523G>A
NC_000001.10:g.12058580G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,998,523 - 11,998,523CLINVAR
GRCh37112,058,580 - 12,058,580CLINVAR
Cytogenetic Map11p36.22CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14734040
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2019-11-12
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.