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Variant : CV624922 (NM_014874.3(MFN2):c.742C>G (p.Leu248Val)) Homo sapiens

Symbol: CV624922
Name: NM_014874.3(MFN2):c.742C>G (p.Leu248Val)
Condition: Charcot-Marie-Tooth disease [RCV000789703]
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): LRG_255t1:c.742C>G
NG_007945.1:g.23841C>G
NC_000001.10:g.12059078C>G
NC_000001.11:g.11999021C>G
NP_055689.1:p.Leu248Val
NM_001127660.1:c.742C>G
LRG_255:g.23841C>G
LRG_255p1:p.Leu248Val
NP_001121132.1:p.Leu248Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,999,021 - 11,999,021CLINVAR
GRCh37112,059,078 - 12,059,078CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth Neuropathy



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14700052
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2019-11-12
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.