Variant #0000786886 (NC_000015.9:g.72641442C>A, HEXA(NM_000520.4):c.964G>T)
Individual ID |
00374341 |
Chromosome |
15 |
Allele |
Both (homozygous) |
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.72641442C>A |
DNA change (hg38) |
g.72349101C>A |
Published as |
- |
ISCN |
- |
DB-ID |
HEXA_000048 |
Variant remarks |
- |
Reference |
PubMed: Ganapathy 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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