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Variant : CV364400 (NM_014874.3(MFN2):c.444C>T (p.Thr148=)) Homo sapiens

Symbol: CV364400
Name: NM_014874.3(MFN2):c.444C>T (p.Thr148=)
Condition: not specified [RCV000431445]
Clinical Significance: likely benign
Last Evaluated: 04/25/2016
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): LRG_255t1:c.444C>T
LRG_255:g.21108C>T
NG_007945.1:g.21108C>T
NC_000001.11:g.11996288C>T
NC_000001.10:g.12056345C>T
LRG_255p1:p.Thr148=
NP_055689.1:p.Thr148=
NM_001127660.1:c.444C>T
NP_001121132.1:p.Thr148=
Position
Human AssemblyChrPosition (strand)Source
GRCh38111,996,288 - 11,996,288CLINVAR
GRCh37112,056,345 - 12,056,345CLINVAR
Cytogenetic Map11p36.22CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12840827
Created: 2017-04-11
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.