Variant #0000001831 (NC_000001.10:g.12069698C>T, MFN2(NM_014874.3):c.2119C>T)
Individual ID |
00001831 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.12069698C>T |
Reference |
Calvo J1, Funalot B, Ouvrier RA, Lazaro L, Toutain A, De Mas P, Bouche P, Gilbert-Dussardier B, Arne-Bes MC, Carrière JP, Journel H, Minot-Myhie MC, Guillou C, Ghorab K, Magy L, Sturtz F, Vallat JM, Magdelaine C.(2009) |
DB-ID |
MFN2_000002 See all 2 reported entries |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0.00025 View details |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
Variant on transcripts
Screenings
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