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Variant : CV556584 (NM_014874.3(MFN2):c.2162T>C (p.Ile721Thr)) Homo sapiens

Symbol: CV556584
Name: NM_014874.3(MFN2):c.2162T>C (p.Ile721Thr)
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000689817]
Clinical Significance: uncertain significance
Last Evaluated: 01/31/2018
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_255t1:c.2162T>C
LRG_255:g.34504T>C
NG_007945.1:g.34504T>C
NC_000001.11:g.12009684T>C
NC_000001.10:g.12069741T>C
LRG_255p1:p.Ile721Thr
NP_055689.1:p.Ile721Thr
NM_014874.3:c.2162T>C
NM_001127660.1:c.2162T>C
NP_001121132.1:p.Ile721Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,009,684 - 12,009,684CLINVAR
GRCh37112,069,741 - 12,069,741CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth, Type 2



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13812964
Created: 2018-11-06
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.