Variant #0000649381 (NC_000016.9:g.68772227G>T, CDH1(NM_004360.3):c.76G>T)
Individual ID |
00291524 |
Chromosome |
16 |
Allele |
Parent #1 |
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.68772227G>T |
DNA change (hg38) |
g.68738324G>T |
Published as |
- |
ISCN |
- |
DB-ID |
CDH1_000377 |
Variant remarks |
8 heterozygous, no homozygous; Clinindb (India) |
Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
ClinVar ID |
- |
dbSNP ID |
rs786201058 |
Origin |
Germline |
Segregation |
- |
Frequency |
8/2746 individuals |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Mohammed Faruq |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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