Variant #0000408683 (NC_000009.11:g.101608297C>T, NM_024642.4:c.1497C>T (GALNT12))
Individual ID |
00183597 |
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.101608297C>T |
DNA change (hg38) |
g.98846015C>T |
Published as |
- |
ISCN |
- |
DB-ID |
GALNT12_000005 See all 3 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs35632007 |
Origin |
Germline |
Segregation |
- |
Frequency |
1/206 |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.0018 View details |
Owner |
Laura Valle |
Database submission license |
No license selected |
Created by |
Laura Valle |
Date created |
2013-09-16 16:49:00 +02:00 (CEST) |
Date last edited |
2019-02-22 12:25:11 +01:00 (CET) |

Variant on transcripts
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