Variant #0000714892 (NC_000016.9:g.65038609C>G, NM_001797.2:c.164G>C (CDH11))
Individual ID |
00329103 |
Chromosome |
16 |
Allele |
Unknown |
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.65038609C>G |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
CDH11_000006 |
Variant remarks |
- |
Reference |
PubMed: Li 2021, Journal: Li 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Dong Li |
Database submission license |
No license selected |
Created by |
Dong Li |
Date created |
2021-02-03 21:15:50 +01:00 (CET) |
Date last edited |
2021-04-06 19:23:55 +02:00 (CEST) |

Variant on transcripts
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