Variant #0000790159 (NC_000003.11:g.50230572G>A, NM_144499.2:c.113G>A (GNAT1))
Individual ID |
00376529 |
Chromosome |
3 |
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.50230572G>A |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
GNAT1_000007 See all 20 reported entries |
Variant remarks |
- |
Reference |
PubMed: Zeitz-2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |
Date created |
2021-06-25 02:22:54 +02:00 (CEST) |
Date last edited |
2024-02-13 15:39:08 +01:00 (CET) |

Variant on transcripts
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