Variant #0000001006 (NC_000016.10:g.88835299A>G, NM_000512.4:c.812T>C (GALNS))
Individual ID |
00000198 |
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.88835299A>G |
Published as |
- |
Reference |
Huey Yin Leong et al. (2019) |
DB-ID |
GALNS_000013 |
dbSNP ID |
- |
Frequency |
2/34 |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Nuur Athirah Binti Mohd Daud |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Nuur Athirah Binti Mohd Daud |
Date created |
2020-11-30 10:23:39 +08:00 (CST) |
Date last edited |
2020-12-14 17:07:20 +08:00 (CST) |

Variant on transcripts
Screenings
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