Variant #0000036537 (NC_000018.9:g.10671606_10671608del, NM_001378183.1:c.8520_8522del (PIEZO2))
Individual ID |
00016703 |
Chromosome |
18 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.10671606_10671608del |
DNA change (hg38) |
g.10671609_10671611del |
Published as |
- |
ISCN |
- |
DB-ID |
PIEZO2_000015 |
Variant remarks |
- |
Reference |
PubMed: Coste 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Marianne Vos (LOVD-team) |
Database submission license |
No license selected |
Created by |
Marianne Vos (LOVD-team) |
Date created |
2014-05-27 10:18:38 +02:00 (CEST) |
Date last edited |
2020-07-14 16:32:33 +02:00 (CEST) |

Variant on transcripts
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