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Variant : CV276476 (NM_014874.3(MFN2):c.*221_*222dup) Homo sapiens

Symbol: CV276476
Name: NM_014874.3(MFN2):c.*221_*222dup
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000372531]|Charcot-Marie-Tooth, Type 2 [RCV000372531]|Hereditary motor and sensory neuropathy [RCV000317896]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: duplication (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_255:g.36606_36607dup
NG_007945.1:g.36606_36607dup
LRG_255t1:c.*221_*222dup
NM_001127660.1:c.*221_*222dup
NM_014874.3:c.*221_*222dup
NC_000001.11:g.12011786_12011787dup
NC_000001.10:g.12071843_12071844dup
NM_014874.3:c.*221_*222dupTT
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,011,786 - 12,011,787CLINVAR
GRCh37112,071,843 - 12,071,844CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth, Type 2



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11654458
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.