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
Screenings
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