Variant #0000408691 (NC_000009.11:g.101570283C>G, GALNT12(NM_024642.4):c.303C>G)
Individual ID |
00183604 |
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.101570283C>G |
DNA change (hg38) |
g.98808001C>G |
Published as |
- |
ISCN |
- |
DB-ID |
GALNT12_000018 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00016 View details |
Owner |
Daniel Evans |
Database submission license |
No license selected |
Created by |
Daniel Evans |

Variant on transcripts
Screenings
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