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Variant : CV364339 (NM_014874.3(MFN2):c.1113G>A (p.Ala371=)) Homo sapiens

Symbol: CV364339
Name: NM_014874.3(MFN2):c.1113G>A (p.Ala371=)
Condition: not specified [RCV000439737]
Clinical Significance: likely benign
Last Evaluated: 08/01/2016
Review Status: 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.1113G>A
LRG_255:g.26876G>A
NG_007945.1:g.26876G>A
NC_000001.11:g.12002056G>A
NC_000001.10:g.12062113G>A
LRG_255p1:p.Ala371=
NP_055689.1:p.Ala371=
NM_001127660.1:c.1113G>A
NP_001121132.1:p.Ala371=
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,002,056 - 12,002,056CLINVAR
GRCh37112,062,113 - 12,062,113CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12845399
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.