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Variant : CV276496 (NM_014874.3(MFN2):c.*1640del) Homo sapiens

Symbol: CV276496
Name: NM_014874.3(MFN2):c.*1640del
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000310683]|Charcot-Marie-Tooth, Type 2 [RCV000310683]|Hereditary motor and sensory neuropathy [RCV000269674]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_014874.3:c.*1640del
LRG_255:g.38025del
LRG_255t1:c.*1640del
NG_007945.1:g.38025del
NC_000001.11:g.12013205del
NC_000001.10:g.12073262del
NM_001127660.1:c.*1640del
NM_014874.3:c.*1640delA
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,013,205 - 12,013,205CLINVAR
GRCh37112,073,262 - 12,073,262CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth, Type 2



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11646201
Created: 2017-01-11
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.