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Variant : CV432972 (NM_014874.3(MFN2):c.1101G>C (p.Gln367His)) Homo sapiens

Symbol: CV432972
Name: NM_014874.3(MFN2):c.1101G>C (p.Gln367His)
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000559610]|not specified [RCV000508148]
Clinical Significance: uncertain significance
Last Evaluated: 01/03/2018
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001127660.1:c.1101G>C
NM_014874.3:c.1101G>C
LRG_255t1:c.1101G>C
LRG_255:g.26864G>C
NG_007945.1:g.26864G>C
NC_000001.11:g.12002044G>C
NC_000001.10:g.12062101G>C
LRG_255p1:p.Gln367His
NP_001121132.1:p.Gln367His
NP_055689.1:p.Gln367His
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,002,044 - 12,002,044CLINVAR
GRCh37112,062,101 - 12,062,101CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: AllHighlyPenetrant; Charcot-Marie-Tooth, Type 2



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13437014
Created: 2017-10-10
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.