Variant #0000000656 (NC_000017.10:g.78078910del, NM_000152.3:c.525del (GAA))
Individual ID |
00000076 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.78078910del |
DNA change (hg38) |
g.80105111del |
Published as |
- |
ISCN |
- |
DB-ID |
GAA_000028 See all 54 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.0001 View details |
Owner |
Gerard C.P. Schaafsma |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Gerard C.P. Schaafsma |
Date created |
2011-04-06 16:20:25 +02:00 (CEST) |
Date last edited |
2025-06-09 14:52:08 +02:00 (CEST) |

Variant on transcripts
Screenings
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