Variant #0000285101 (NC_000015.9:g.72637817C>T, HEXA(NM_000520.4):c.1496G>A)
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.72637817C>T |
DNA change (hg38) |
g.72345476C>T |
Published as |
HEXA(NM_000520.6):c.1496G>A (p.R499H) |
ISCN |
- |
DB-ID |
HEXA_000007 |
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) |
6.0E-5 View details |
Owner |
VKGL-NL_Utrecht |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Utrecht |

Variant on transcripts
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