Variant #0000288112 (NC_000017.10:g.78078910del, NM_000152.3:c.525del (GAA))
Chromosome |
17 |
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.78078910del |
DNA change (hg38) |
g.80105111del |
Published as |
GAA(NM_000152.3):c.525delT (p.(Glu176ArgfsTer45)), GAA(NM_000152.3):c.525delT (p.E176Rfs*45), GAA(NM_000152.5):c.525delT (p.E176Rfs*45) |
ISCN |
- |
DB-ID |
GAA_000028 See all 54 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) |
0.0001 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2018-01-15 20:58:59 +01:00 (CET) |
Date last edited |
2023-01-11 15:44:22 +01:00 (CET) |

Variant on transcripts
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