Variant #0000058897 (NC_000023.10:g.99551275_99663595del, NM_001184880.1:c.(?_-1)_(*1_?)del (PCDH19))
Individual ID |
00032661 |
Chromosome |
X |
Allele |
Parent #1 |
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.99551275_99663595del |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
PCDH19_000000 See all 8 reported entries |
Variant remarks |
whole gene deletion Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. |
Reference |
PubMed: Depienne 2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Christel Depienne |
Database submission license |
No license selected |
Created by |
Christel Depienne |
Date created |
2011-12-12 23:19:57 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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