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Variant : CV210605 (NM_014874.3(MFN2):c.2205-13C>A) Homo sapiens

Symbol: CV210605
Name: NM_014874.3(MFN2):c.2205-13C>A
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000305117]|Charcot-Marie-Tooth, Type 2 [RCV000305117]|Hereditary motor and sensory neuropathy [RCV000392136]|not provided [RCV000515087]|not specified [RCV000197097]
Clinical Significance: benign|likely benign
Last Evaluated: 04/05/2017
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_255t1:c.2205-13C>A
NM_014874.3:c.2205-13C>A
LRG_255:g.36303C>A
NG_007945.1:g.36303C>A
NC_000001.11:g.12011483C>A
NC_000001.10:g.12071540C>A
NM_001127660.1:c.2205-13C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,011,483 - 12,011,483CLINVAR
GRCh37112,071,540 - 12,071,540CLINVAR
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: 10409908
Created: 2015-11-10
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.