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Variant : CV624971 (NM_014874.3(MFN2):c.2258dup (p.Gln754fs)) Homo sapiens

Symbol: CV624971
Name: NM_014874.3(MFN2):c.2258dup (p.Gln754fs)
Condition: Charcot-Marie-Tooth disease [RCV000789613]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: MFN2  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NM_014874.3:c.2258dup
LRG_255t1:c.2258dup
NG_007945.1:g.36369dup
NC_000001.11:g.12011549dup
NC_000001.10:g.12071606dup
NP_055689.1:p.Gln754fs
NM_001127660.1:c.2258dup
LRG_255:g.36369dup
LRG_255p1:p.Gln754fs
NP_001121132.1:p.Gln754fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,011,549 - 12,011,549CLINVAR
GRCh37112,071,606 - 12,071,606CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth Neuropathy



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14699991
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.