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Variant : CV17316 (NM_014874.3(MFN2):c.827A>G (p.Gln276Arg)) Homo sapiens

Symbol: CV17316
Name: NM_014874.3(MFN2):c.827A>G (p.Gln276Arg)
Condition: Hereditary motor and sensory neuropathy with optic atrophy [RCV000002366]
Clinical Significance: pathogenic
Last Evaluated: 06/17/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only
HGVS Name(s): LRG_255t1:c.827A>G
NM_014874.3:c.827A>G
LRG_255:g.26231A>G
NG_007945.1:g.26231A>G
NC_000001.11:g.12001411A>G
NC_000001.10:g.12061468A>G
LRG_255p1:p.Gln276Arg
NP_055689.1:p.Gln276Arg
O95140:p.Gln276Arg
NM_001127660.1:c.827A>G
NP_001121132.1:p.Gln276Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,001,411 - 12,001,411CLINVAR
GRCh37112,061,468 - 12,061,468CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; CHARCOT-MARIE-TOOTH DISEASE, TYPE 6A; HMSN VIA; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; PERIPHERAL NEUROPATHY AND OPTIC ATROPHY



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8595716
Created: 2014-05-13
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.