Variant #0000368447 (NC_000023.10:g.99663534del, NM_001184880.1:c.64del (PCDH19))
Individual ID |
00163972 |
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.99663534del |
DNA change (hg38) |
g.100408536del |
Published as |
64delC |
ISCN |
- |
DB-ID |
PCDH19_000164 |
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 10:44:38 +02:00 (CEST) |
Date last edited |
2020-07-20 17:37:34 +02:00 (CEST) |

Variant on transcripts
Screenings
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