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Variant : CV141915 (NM_014874.3(MFN2):c.957C>T (p.Gly319=)) Homo sapiens

Symbol: CV141915
Name: NM_014874.3(MFN2):c.957C>T (p.Gly319=)
Condition: Charcot-Marie-Tooth disease, type 2 [RCV000205687]|Charcot-Marie-Tooth, Type 2 [RCV000343845]|Hereditary motor and sensory neuropathy [RCV000291191]|not specified [RCV000126749]
Clinical Significance: benign|likely benign
Last Evaluated: 12/08/2016
Review Status: classified by single submitter|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.957C>T
LRG_255:g.26361C>T
NG_007945.1:g.26361C>T
NC_000001.11:g.12001541C>T
NC_000001.10:g.12061598C>T
LRG_255p1:p.Gly319=
NP_055689.1:p.Gly319=
NM_014874.3:c.957C>T
NM_001127660.1:c.957C>T
NP_001121132.1:p.Gly319=
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,001,541 - 12,001,541CLINVAR
GRCh37112,061,598 - 12,061,598CLINVAR
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: 8691949
Created: 2014-07-08
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.