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Variant : CV276860 (NM_014874.3(MFN2):c.-212T>C) Homo sapiens

Symbol: CV276860
Name: NM_014874.3(MFN2):c.-212T>C
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000370987]|Charcot-Marie-Tooth, Type 2 [RCV000370987]|Ehlers-Danlos syndrome, hydroxylysine-deficient [RCV000387990]|Hereditary motor and sensory neuropathy [RCV000332649]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: MFN2   PLOD1  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_255t1:c.-212T>C
NM_014874.3:c.-212T>C
LRG_255:g.5242T>C
NG_007945.1:g.5242T>C
NC_000001.11:g.11980422T>C
NC_000001.10:g.12040479T>C
NM_001127660.1:c.-67T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,980,422 - 11,980,422CLINVAR
GRCh37112,040,479 - 12,040,479CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth, Type 2; EDS VI; Ehlers-Danlos Syndrome, Kyphoscoliotic Form; EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1; EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE; EHLERS-DANLOS SYNDROME, TYPE VI; EHLERS-DANLOS SYNDROME, TYPE VIA
Age Of Onset: infancy
Prevalence: 1:100,000 live births. carrier frequency is estimated to be 1:150.



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11666301
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.