Variant #0000798014 (NC_000017.10:g.7906439C>T, NM_000180.3:c.74C>T (GUCY2D))
Individual ID |
00382551 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.7906439C>T |
DNA change (hg38) |
g.8003121C>T |
Published as |
GUCY2D c.2513G>A, p.(Arg838His), c.74C>T, p.(Ser25Phe) |
ISCN |
- |
DB-ID |
GUCY2D_000025 See all 6 reported entries |
Variant remarks |
- |
Reference |
PubMed: Jespersgaar 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.0022 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-09-09 12:39:39 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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