Variant #0000905544 (NC_000003.11:g.50230572G>A, NM_144499.2:c.113G>A (GNAT1))
Individual ID |
00426649 |
Chromosome |
3 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.50230572G>A |
DNA change (hg38) |
g.50193139G>A |
Published as |
GNAT1 p.G38D |
ISCN |
- |
DB-ID |
GNAT1_000007 See all 20 reported entries |
Variant remarks |
heterozygous; no nucleotide annotation, extrapolated from protein and databases |
Reference |
PubMed: Hayashi 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
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 |
Anna Tracewska |
Date created |
2022-12-02 12:04:56 +01:00 (CET) |
Date last edited |
2022-12-02 12:05:09 +01:00 (CET) |

Variant on transcripts
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