Variant #0000813823 (NC_000016.9:g.68716271G>T, NM_001793.4:c.1063G>T (CDH3))
Individual ID |
00385112 |
Chromosome |
16 |
Allele |
Paternal (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.68716271G>T |
DNA change (hg38) |
g.68682368G>T |
Published as |
c.1063G>T, p.Asp355Tyr |
ISCN |
- |
DB-ID |
CDH3_000063 See all 2 reported entries |
Variant remarks |
Compound heterozygous |
Reference |
PubMed: Schauren 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
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 |
2021-10-07 11:34:54 +02:00 (CEST) |
Date last edited |
2025-01-02 17:22:20 +01:00 (CET) |

Variant on transcripts
Screenings
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