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Variant : CV276952 (NM_014874.3(MFN2):c.-344C>T) Homo sapiens

Symbol: CV276952
Name: NM_014874.3(MFN2):c.-344C>T
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000400244]|Charcot-Marie-Tooth, Type 2 [RCV000400244]|Hereditary motor and sensory neuropathy [RCV000297136]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_255t1:c.-344C>T
NM_014874.3:c.-344C>T
LRG_255:g.5110C>T
NG_007945.1:g.5110C>T
NC_000001.11:g.11980290C>T
NC_000001.10:g.12040347C>T
NM_001127660.1:c.-199C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,980,290 - 11,980,290CLINVAR
GRCh37112,040,347 - 12,040,347CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth, Type 2



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11651161
Created: 2017-01-11
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.