Variant #0000844622 (NC_000017.10:g.7906551G>A, NM_000180.3:c.186G>A (GUCY2D))
Individual ID |
00406583 |
Chromosome |
17 |
Allele |
Maternal (confirmed) |
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.7906551G>A |
DNA change (hg38) |
g.8003233G>A |
Published as |
GUCY2D p.W62X (c.186G>A) |
ISCN |
- |
DB-ID |
GUCY2D_000286 |
Variant remarks |
heterozygous |
Reference |
PubMed: Preising 2007 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-04-01 15:23:22 +02:00 (CEST) |
Date last edited |
2024-11-07 16:30:46 +01:00 (CET) |

Variant on transcripts
Screenings
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