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
Screenings
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