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Variant : CV277039 (NM_014874.3(MFN2):c.*1539G>A) Homo sapiens

Symbol: CV277039
Name: NM_014874.3(MFN2):c.*1539G>A
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000373618]|Charcot-Marie-Tooth, Type 2 [RCV000373618]|Hereditary motor and sensory neuropathy [RCV000351640]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_255t1:c.*1539G>A
NM_014874.3:c.*1539G>A
LRG_255:g.37924G>A
NG_007945.1:g.37924G>A
NC_000001.11:g.12013104G>A
NC_000001.10:g.12073161G>A
NM_001127660.1:c.*1539G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,013,104 - 12,013,104CLINVAR
GRCh37112,073,161 - 12,073,161CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth, Type 2



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11593732
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.