Variant #0000277628 (NC_000015.9:g.72642905C>T, HEXA(NM_000520.4):c.759G>A)
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.72642905C>T |
DNA change (hg38) |
g.72350564C>T |
Published as |
HEXA(NM_000520.5):c.759G>A (p.V253=), HEXA(NM_000520.6):c.759G>A (p.V253=) |
ISCN |
- |
DB-ID |
HEXA_000013 See all 2 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00457 View details |
Owner |
VKGL-NL_AMC |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_AMC |

Variant on transcripts
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