Variant #0000936507 (NC_000023.10:g.91548808_99612513del, NM_001184880.1:c.2617-6811_*4633{0} (PCDH19))
Individual ID |
00438596 |
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.91548808_99612513del |
DNA change (hg38) |
g.92293810_100357515del |
Published as |
- |
ISCN |
- |
DB-ID |
PCDH19_000250 |
Variant remarks |
- |
Reference |
PubMed: Hamdan 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2023-10-21 21:28:18 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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