Variant #0000408685 (NC_000009.11:g.101611335G>C, NM_024642.4:c.1707G>C (GALNT12))
| Individual ID |
00183599 |
| 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.101611335G>C |
| DNA change (hg38) |
g.98849053G>C |
| Published as |
- |
| ISCN |
- |
| DB-ID |
GALNT12_000006 |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
rs2273846 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
0.043 |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.08611 View details |
| Owner |
Michael Woods |
| Database submission license |
No license selected |
| Created by |
Michael Woods |
| Date created |
2012-03-05 20:22:00 +01:00 (CET) |
| Date last edited |
2019-02-22 12:25:11 +01:00 (CET) |

Variant on transcripts
Screenings
|