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Variant : CV210586 (NM_014874.3(MFN2):c.541G>A (p.Val181Met)) Homo sapiens

Symbol: CV210586
Name: NM_014874.3(MFN2):c.541G>A (p.Val181Met)
Condition: not provided [RCV000199084]
Clinical Significance: likely pathogenic
Last Evaluated: 03/04/2014
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.541G>A
LRG_255:g.22183G>A
NG_007945.1:g.22183G>A
NC_000001.11:g.11997363G>A
NC_000001.10:g.12057420G>A
LRG_255p1:p.Val181Met
NP_055689.1:p.Val181Met
NM_014874.3:c.541G>A
NM_001127660.1:c.541G>A
NP_001121132.1:p.Val181Met
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,997,363 - 11,997,363CLINVAR
GRCh37112,057,420 - 12,057,420CLINVAR
Cytogenetic Map11p36.22CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10410874
Created: 2015-11-10
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.