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Variant : CV498029 (NM_014874.3(MFN2):c.666G>A (p.Val222=)) Homo sapiens

Symbol: CV498029
Name: NM_014874.3(MFN2):c.666G>A (p.Val222=)
Condition: not specified [RCV000614301]
Clinical Significance: likely benign
Last Evaluated: 08/29/2017
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): NM_014874.3:c.666G>A
LRG_255t1:c.666G>A
LRG_255:g.23656G>A
NG_007945.1:g.23656G>A
NC_000001.11:g.11998836G>A
NC_000001.10:g.12058893G>A
LRG_255p1:p.Val222=
NP_055689.1:p.Val222=
NM_001127660.1:c.666G>A
NP_001121132.1:p.Val222=
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,998,836 - 11,998,836CLINVAR
GRCh37112,058,893 - 12,058,893CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13540151
Created: 2018-05-08
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.