Variant #0000011655 (NC_000001.10:-, NMNAT1(NM_022787.3):c.769G>A)
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Type |
Substitution |
DNA change (genomic) (Relative to hg19 / GRCh37) |
- |
Reference |
GenBank |
DB-ID |
NMNAT1_00002 See all 9 reported entries |
Frequency |
- |
Variant remarks |
Only the patient's sample was available. The patient has mutations p.E257K and p.V151F. |
ClassClinical |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Qi Ming |
Database submission license |
No license selected |
Created by |
Qi Ming |

Variant on transcripts
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