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Variant : CV212070 (NM_001127660.1(MFN2):c.708+5CTC[2]) Homo sapiens

Symbol: CV212070
Name: NM_001127660.1(MFN2):c.708+5CTC[2]
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000197438]
Clinical Significance: uncertain significance
Last Evaluated: 10/12/2018
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: microsatellite (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.11998883_11998885CTC[2]
LRG_255t1:c.708+11_708+13del
NM_014874.3:c.708+11_708+13delCTC
NG_007945.1:g.23703_23705CTC[2]
NM_014874.3:c.708+5CTC[2]
NM_001127660.1:c.708+5CTC[2]
NC_000001.10:g.12058940_12058942CTC[2]
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,998,889 - 11,998,891CLINVAR
GRCh37112,058,946 - 12,058,948CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth, Type 2



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10405726
Created: 2015-11-10
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.