Variant #0000352455 (NC_000014.8:g.77786864G>T, NM_013382.5:c.161C>A (POMT2))
Individual ID |
00152501 |
Chromosome |
14 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.77786864G>T |
DNA change (hg38) |
g.77320521G>T |
Published as |
- |
ISCN |
- |
DB-ID |
POMT2_000006 See all 2 reported entries |
Variant remarks |
- |
Reference |
from website {DBsub-Emory} |
ClinVar ID |
- |
dbSNP ID |
rs8177536 |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00641 View details |
Owner |
Madhuri Hegde |
Database submission license |
No license selected |
Created by |
Madhuri Hegde |
Date created |
2012-10-26 14:54:32 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|