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Variant : CV624905 (NM_014874.3(MFN2):c.395G>A (p.Cys132Tyr)) Homo sapiens

Symbol: CV624905
Name: NM_014874.3(MFN2):c.395G>A (p.Cys132Tyr)
Condition: Charcot-Marie-Tooth disease [RCV000789415]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_001127660.1:c.395G>A
LRG_255:g.21059G>A
LRG_255p1:p.Cys132Tyr
NP_001121132.1:p.Cys132Tyr
LRG_255t1:c.395G>A
NG_007945.1:g.21059G>A
NM_014874.3:c.395G>A
NC_000001.11:g.11996239G>A
NP_055689.1:p.Cys132Tyr
NC_000001.10:g.12056296G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,996,239 - 11,996,239CLINVAR
GRCh37112,056,296 - 12,056,296CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth Neuropathy



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14699877
Created: 2019-08-06
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.