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Variant : CV442603 (NM_014874.3(MFN2):c.163A>T (p.Thr55Ser)) Homo sapiens

Symbol: CV442603
Name: NM_014874.3(MFN2):c.163A>T (p.Thr55Ser)
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000534867]|not provided [RCV000711271]|not specified [RCV000519309]
Clinical Significance: uncertain significance
Last Evaluated: 12/14/2017
Review Status: criteria provided, multiple submitters, no conflicts|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.163A>T
NM_014874.3:c.163A>T
LRG_255t1:c.163A>T
NG_007945.1:g.14151A>T
NC_000001.11:g.11989331A>T
NP_055689.1:p.Thr55Ser
LRG_255:g.14151A>T
NC_000001.10:g.12049388A>T
LRG_255p1:p.Thr55Ser
NP_001121132.1:p.Thr55Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,989,331 - 11,989,331CLINVAR
GRCh37112,049,388 - 12,049,388CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: Charcot-Marie-Tooth, Type 2



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13473141
Created: 2018-01-09
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.