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Variant : CV624962 (NM_014874.3(MFN2):c.2200C>G (p.Leu734Val)) Homo sapiens

Symbol: CV624962
Name: NM_014874.3(MFN2):c.2200C>G (p.Leu734Val)
Condition: Charcot-Marie-Tooth disease [RCV000789069]
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.2200C>G
NP_055689.1:p.Leu734Val
LRG_255t1:c.2200C>G
NG_007945.1:g.34542C>G
NC_000001.11:g.12009722C>G
NC_000001.10:g.12069779C>G
NM_001127660.1:c.2200C>G
LRG_255:g.34542C>G
LRG_255p1:p.Leu734Val
NP_001121132.1:p.Leu734Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,009,722 - 12,009,722CLINVAR
GRCh37112,069,779 - 12,069,779CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth Neuropathy



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14699625
Created: 2019-08-06
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.