Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV210596 (NM_014874.3(MFN2):c.1699A>G (p.Met567Val)) Homo sapiens

Symbol: CV210596
Name: NM_014874.3(MFN2):c.1699A>G (p.Met567Val)
Condition: not specified [RCV000200034]
Clinical Significance: uncertain significance
Last Evaluated: 10/03/2013
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.1699A>G
NM_014874.3:c.1699A>G
LRG_255:g.30734A>G
NG_007945.1:g.30734A>G
NC_000001.11:g.12005914A>G
NC_000001.10:g.12065971A>G
LRG_255p1:p.Met567Val
NP_055689.1:p.Met567Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38112,005,914 - 12,005,914CLINVAR
GRCh37112,065,971 - 12,065,971CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

 
CRRD Object Information
CRRD ID: 10411326
Created: 2015-11-10
Species: Homo sapiens
Last Modified: 2017-04-04
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.