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Variant : CV141920 (NM_014874.3(MFN2):c.2113G>A (p.Val705Ile)) Homo sapiens

Symbol: CV141920
Name: NM_014874.3(MFN2):c.2113G>A (p.Val705Ile)
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000227305]|Charcot-Marie-Tooth, Type 2 [RCV000352092]|not provided [RCV000711273]|not specified [RCV000126754]
Clinical Significance: benign|likely benign
Last Evaluated: 08/15/2018
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|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.2113G>A
LRG_255:g.34455G>A
NG_007945.1:g.34455G>A
NC_000001.11:g.12009635G>A
NC_000001.10:g.12069692G>A
LRG_255p1:p.Val705Ile
NP_055689.1:p.Val705Ile
NM_014874.3:c.2113G>A
NM_001127660.1:c.2113G>A
NP_001121132.1:p.Val705Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,009,635 - 12,009,635CLINVAR
GRCh37112,069,692 - 12,069,692CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: AllHighlyPenetrant; Charcot-Marie-Tooth, Type 2



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8691954
Created: 2014-07-08
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.