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Variant : CV191572 (NM_014874.3(MFN2):c.1452G>A (p.Thr484=)) Homo sapiens

Symbol: CV191572
Name: NM_014874.3(MFN2):c.1452G>A (p.Thr484=)
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000205476]|Charcot-Marie-Tooth, Type 2 [RCV000336723]|Hereditary motor and sensory neuropathy [RCV000391814]|not provided [RCV000174773]|not specified [RCV000198508]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 05/30/2017
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_255t1:c.1452G>A
LRG_255:g.29704G>A
NG_007945.1:g.29704G>A
NC_000001.11:g.12004884G>A
NC_000001.10:g.12064941G>A
LRG_255p1:p.Thr484=
NP_055689.1:p.Thr484=
NM_014874.3:c.1452G>A
p.Thr484Thr
NM_001127660.1:c.1452G>A
NP_001121132.1:p.Thr484=
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,004,884 - 12,004,884CLINVAR
GRCh37112,064,941 - 12,064,941CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: AllHighlyPenetrant; Charcot-Marie-Tooth, Type 2



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10050196
Created: 2015-07-14
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.