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Variant : CV624930 (NM_014874.3(MFN2):c.851T>A (p.Phe284Tyr)) Homo sapiens

Symbol: CV624930
Name: NM_014874.3(MFN2):c.851T>A (p.Phe284Tyr)
Condition: Charcot-Marie-Tooth disease [RCV000789391]
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_014874.3:c.851T>A
NC_000001.10:g.12061492T>A
NP_055689.1:p.Phe284Tyr
LRG_255t1:c.851T>A
NG_007945.1:g.26255T>A
NC_000001.11:g.12001435T>A
NM_001127660.1:c.851T>A
LRG_255:g.26255T>A
LRG_255p1:p.Phe284Tyr
NP_001121132.1:p.Phe284Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,001,435 - 12,001,435CLINVAR
GRCh37112,061,492 - 12,061,492CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth Neuropathy



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14699864
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.