Variant #0000986035 (NC_000005.9:g.137167985_137232892dup, NM_006790.2:c.-309_*466dup (MYOT))
| Individual ID |
00450484 |
| Chromosome |
5 |
| Allele |
Unknown |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely pathogenic (dominant) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.137167985_137232892dup |
| DNA change (hg38) |
g.137832296_137897203dup |
| Published as |
hg38 chr5:137,832,296-137,897,203dup |
| ISCN |
- |
| DB-ID |
MYOT_000079 |
| Variant remarks |
65kb duplication |
| Reference |
Journal: Steyaert 2024 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
De novo |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2024-05-28 19:23:55 +02:00 (CEST) |
| Date last edited |
2024-05-28 19:30:00 +02:00 (CEST) |

Variant on transcripts
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