Variant #0000352456 (NC_000014.8:g.77786863C>A, NM_013382.5:c.162G>T (POMT2))
| Individual ID |
00152502 |
| 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.77786863C>A |
| DNA change (hg38) |
g.77320520C>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
POMT2_000007 See all 4 reported entries |
| Variant remarks |
- |
| Reference |
from website {DBsub-Emory} |
| ClinVar ID |
- |
| dbSNP ID |
rs2270420 |
| Origin |
Unknown |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.0741 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
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