Variant #0000352304 (NC_000009.11:g.134381496dup, NC_000009.11(NM_007171.3):c.123-5dup (POMT1))
Individual ID |
00152400 |
Chromosome |
9 |
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.134381496dup |
DNA change (hg38) |
g.131506109dup |
Published as |
- |
ISCN |
- |
DB-ID |
POMT1_000052 See all 2 reported entries |
Variant remarks |
- |
Reference |
from website {DBsub-Emory} |
ClinVar ID |
- |
dbSNP ID |
rs10122068 |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Madhuri Hegde |
Database submission license |
No license selected |
Created by |
Madhuri Hegde |
Date created |
2012-10-26 14:53:23 +02:00 (CEST) |
Date last edited |
2020-06-25 19:07:41 +02:00 (CEST) |

Variant on transcripts
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