Variant #0000004749 (NC_000015.9:g.72639027C>T, HEXA(NM_000520.4):c.1171G>A)
Individual ID |
00004749 |
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.72639027C>T |
Reference |
Navon R1, Khosravi R, Korczyn T, Masson M, Sonnino S, Fardeau M, Eymard B, Lefevre M, Turpin JC, Rondot P, et al.(1995) |
DB-ID |
HEXA_000001 See all 2 reported entries |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
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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