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
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