Variant #0000000608 (NC_000016.9:g.28497286_28498251del, NC_000016.9(NM_001042432.1):c.461-280_677+382del (CLN3))
| Individual ID |
00000028 |
| Chromosome |
16 |
| 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.28497286_28498251del |
| DNA change (hg38) |
g.28485965_28486930del |
| Published as |
INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL |
| ISCN |
- |
| DB-ID |
CLN3_000002 See all 23 reported entries |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| 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 |
2025-07-08 17:59:23 +02:00 (CEST) |

Variant on transcripts
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