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Variant : CV624899 (NM_001127660.1(MFN2):c.322G>A (p.Gly108Arg)) Homo sapiens

Symbol: CV624899
Name: NM_001127660.1(MFN2):c.322G>A (p.Gly108Arg)
Condition: Charcot-Marie-Tooth disease [RCV000790317]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_014874.3:c.322G>A
NG_007945.1:g.20986G>A
NC_000001.11:g.11996166G>A
NC_000001.10:g.12056223G>A
NP_001121132.1:p.Gly108Arg
NP_055689.1:p.Gly108Arg
LRG_255t1:c.322G>A
LRG_255:g.20986G>A
LRG_255p1:p.Gly108Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,996,166 - 11,996,166CLINVAR
GRCh37112,056,223 - 12,056,223CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth Neuropathy



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14700479
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2019-11-05
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.