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Variant : CV655029 (NM_014874.3(MFN2):c.1413G>A (p.Glu471=)) Homo sapiens

Symbol: CV655029
Name: NM_014874.3(MFN2):c.1413G>A (p.Glu471=)
Condition: not provided [RCV000827598]
Clinical Significance: likely benign
Last Evaluated: 05/31/2018
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.1413G>A
NG_007945.1:g.29665G>A
NC_000001.11:g.12004845G>A
NC_000001.10:g.12064902G>A
NM_001127660.1:c.1413G>A
NP_001121132.1:p.Glu471=
NP_055689.1:p.Glu471=
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,004,845 - 12,004,845CLINVAR
GRCh37112,064,902 - 12,064,902CLINVAR
Cytogenetic Map11p36.22CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14710058
Created: 2019-09-06
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.