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Variant : CV276969 (NM_014874.3(MFN2):c.2145C>T (p.Ala715=)) Homo sapiens

Symbol: CV276969
Name: NM_014874.3(MFN2):c.2145C>T (p.Ala715=)
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000279575]|Charcot-Marie-Tooth, Type 2 [RCV000279575]|Hereditary motor and sensory neuropathy [RCV000387975]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NP_001121132.1:p.Ala715=
LRG_255t1:c.2145C>T
LRG_255:g.34487C>T
NG_007945.1:g.34487C>T
NC_000001.11:g.12009667C>T
NC_000001.10:g.12069724C>T
LRG_255p1:p.Ala715=
NP_055689.1:p.Ala715=
NM_014874.3:c.2145C>T
NM_001127660.1:c.2145C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,009,667 - 12,009,667CLINVAR
GRCh37112,069,724 - 12,069,724CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth, Type 2



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11578342
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.