Variant #0000368448 (NC_000023.10:g.99663415dup, NM_001184880.1:c.183dup (PCDH19))
Individual ID |
00163973 |
Chromosome |
X |
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.99663415dup |
DNA change (hg38) |
g.100408417dup |
Published as |
183_184insT |
ISCN |
- |
DB-ID |
PCDH19_000167 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Xiaoxu Yang |
Database submission license |
No license selected |
Created by |
Xiaoxu Yang |
Date created |
2018-04-30 10:49:28 +02:00 (CEST) |
Date last edited |
2020-07-20 17:37:28 +02:00 (CEST) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|