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Variant : CV657012 (NM_014874.3(MFN2):c.816+260C>T) Homo sapiens

Symbol: CV657012
Name: NM_014874.3(MFN2):c.816+260C>T
Condition: not provided [RCV000844460]
Clinical Significance: benign
Last Evaluated: 06/19/2018
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.816+260C>T
NM_014874.3:c.816+260C>T
NG_007945.1:g.24175C>T
NC_000001.11:g.11999355C>T
NC_000001.10:g.12059412C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,999,355 - 11,999,355CLINVAR
GRCh37112,059,412 - 12,059,412CLINVAR
Cytogenetic Map11p36.22CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14746448
Created: 2019-09-06
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.