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Variant : CV515034 (NM_014874.3(MFN2):c.1161-7C>T) Homo sapiens

Symbol: CV515034
Name: NM_014874.3(MFN2):c.1161-7C>T
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000654024]
Clinical Significance: likely benign
Last Evaluated: 12/27/2017
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.1161-7C>T
NM_014874.3:c.1161-7C>T
LRG_255:g.28805C>T
NG_007945.1:g.28805C>T
NC_000001.11:g.12003985C>T
NC_000001.10:g.12064042C>T
NM_001127660.1:c.1161-7C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,003,985 - 12,003,985CLINVAR
GRCh37112,064,042 - 12,064,042CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth, Type 2



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13625860
Created: 2018-06-12
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.