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Variant : CV625724 (NM_014874.3(MFN2):c.475-1G>C) Homo sapiens

Symbol: CV625724
Name: NM_014874.3(MFN2):c.475-1G>C
Condition: Charcot-Marie-Tooth disease [RCV000790010]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: literature only
HGVS Name(s): LRG_255t1:c.475-1G>C
NM_014874.3:c.475-1G>C
NG_007945.1:g.22116G>C
NC_000001.11:g.11997296G>C
NC_000001.10:g.12057353G>C
NM_001127660.1:c.475-1G>C
LRG_255:g.22116G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,997,296 - 11,997,296CLINVAR
GRCh37112,057,353 - 12,057,353CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth Neuropathy



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14700274
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.