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Variant : CV442609 (NM_014874.3(MFN2):c.818T>G (p.Val273Gly)) Homo sapiens

Symbol: CV442609
Name: NM_014874.3(MFN2):c.818T>G (p.Val273Gly)
Condition: Charcot-Marie-Tooth disease [RCV000789395]|Charcot-Marie-Tooth disease, type 2 [RCV000689677]|not provided [RCV000519202]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 04/23/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_014874.3:c.818T>G
NP_055689.1:p.Val273Gly
NG_007945.1:g.26222T>G
NC_000001.11:g.12001402T>G
LRG_255t1:c.818T>G
LRG_255:g.26222T>G
NC_000001.10:g.12061459T>G
LRG_255p1:p.Val273Gly
NM_001127660.1:c.818T>G
NP_001121132.1:p.Val273Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,001,402 - 12,001,402CLINVAR
GRCh37112,061,459 - 12,061,459CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth, Type 2



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13472729
Created: 2018-01-09
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.