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Variant : CV244189 (NM_014874.3(MFN2):c.659C>T (p.Ala220Val)) Homo sapiens

Symbol: CV244189
Name: NM_014874.3(MFN2):c.659C>T (p.Ala220Val)
Condition: not provided [RCV000236128]
Clinical Significance: likely pathogenic
Last Evaluated: 09/28/2015
Review Status: criteria provided, single submitter
Related Genes: MFN2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_255t1:c.659C>T
LRG_255:g.23649C>T
NG_007945.1:g.23649C>T
NC_000001.11:g.11998829C>T
NC_000001.10:g.12058886C>T
LRG_255p1:p.Ala220Val
NP_055689.1:p.Ala220Val
NM_001127660.1:c.659C>T
NP_001121132.1:p.Ala220Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,998,829 - 11,998,829CLINVAR
GRCh37112,058,886 - 12,058,886CLINVAR
Cytogenetic Map11p36.22CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11523563
Created: 2016-08-09
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.