Variant #0000000338 (NC_000014.8:g.50734520delT, L2HGDH(NM_024884.2):c.1015delA)
Individual ID |
00000119 |
Chromosome |
14 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.50734520delT |
Reference |
- |
DB-ID |
L2HGDH_000001 |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Variome.ir |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Variome.ir |
Variant on transcripts
Screenings
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