Variant #0000148866 (NC_000009.11:g.101608293A>G, GALNT12(NM_024642.4):c.1493A>G)
Individual ID |
00090592 |
Chromosome |
9 |
Allele |
Parent #1 |
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.101608293A>G |
DNA change (hg38) |
g.98846011A>G |
Published as |
- |
ISCN |
- |
DB-ID |
GALNT12_000029 |
Variant remarks |
- |
Reference |
Thibodeau lab (Mayo Clinic) |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Melissa DeRycke |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
|
|