Variant #0000653455 (NC_000015.9:g.72642859C>T, HEXA(NM_000520.4):c.805G>A)
Individual ID |
00295580 |
Chromosome |
15 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.72642859C>T |
DNA change (hg38) |
g.72350518C>T |
Published as |
- |
ISCN |
- |
DB-ID |
HEXA_000004 See all 4 reported entries |
Variant remarks |
Navon et al. 1989. Science 243: 1471 |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs121907954 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00013 View details |
Owner |
Andreas Laner |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Andreas Laner |

Variant on transcripts
Screenings
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