Variant #0000283342 (NC_000009.11:g.101594103G>A, GALNT12(NM_024642.4):c.781G>A)
Chromosome |
9 |
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.101594103G>A |
DNA change (hg38) |
g.98831821G>A |
Published as |
GALNT12(NM_024642.4):c.781G>A (p.D261N) |
ISCN |
- |
DB-ID |
GALNT12_000004 See all 9 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.01197 View details |
Owner |
VKGL-NL_VUmc |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_VUmc |

Variant on transcripts
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