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Variant : CV576407 (NM_014874.3(MFN2):c.1408A>G (p.Ile470Val)) Homo sapiens

Symbol: CV576407
Name: NM_014874.3(MFN2):c.1408A>G (p.Ile470Val)
Condition: not provided [RCV000711270]
Clinical Significance: uncertain significance
Last Evaluated: 03/20/2018
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_014874.3:c.1408A>G
LRG_255t1:c.1408A>G
LRG_255:g.29660A>G
NG_007945.1:g.29660A>G
NC_000001.11:g.12004840A>G
NC_000001.10:g.12064897A>G
LRG_255p1:p.Ile470Val
NP_055689.1:p.Ile470Val
NM_001127660.1:c.1408A>G
NP_001121132.1:p.Ile470Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,004,840 - 12,004,840CLINVAR
GRCh37112,064,897 - 12,064,897CLINVAR
Cytogenetic Map11p36.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13808964
Created: 2018-11-06
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.