Variant #0000691845 (NC_000015.9:g.72638921_72638924dup, HEXA(NM_000520.4):c.1274_1277dup)
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.72638921_72638924dup |
DNA change (hg38) |
- |
Published as |
HEXA(NM_000520.4):c.1277_1278insTATC (p.(Tyr427IlefsTer5)), HEXA(NM_001318825.1):c.1307_1310dupTATC (p.Y438Ifs*5) |
ISCN |
- |
DB-ID |
HEXA_000002 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 |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |

Variant on transcripts
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