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Variant : CV536562 (NM_014874.3(MFN2):c.740G>A (p.Arg247His)) Homo sapiens

Symbol: CV536562
Name: NM_014874.3(MFN2):c.740G>A (p.Arg247His)
Condition: not provided [RCV000658108]
Clinical Significance: uncertain significance
Last Evaluated: 05/18/2018
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): LRG_255:g.23839G>A
NP_055689.1:p.Arg247His
LRG_255t1:c.740G>A
NC_000001.11:g.11999019G>A
LRG_255p1:p.Arg247His
NG_007945.1:g.23839G>A
NC_000001.10:g.12059076G>A
NM_014874.3:c.740G>A
NM_001127660.1:c.740G>A
NP_001121132.1:p.Arg247His
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,999,019 - 11,999,019CLINVAR
GRCh37112,059,076 - 12,059,076CLINVAR
Cytogenetic Map11p36.22CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13705551
Created: 2018-08-07
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.