Variant #0000374827 (NC_000010.10:g.56424010del, NM_033056.3:c.16del (PCDH15))
Individual ID |
00166248 |
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.56424010del |
DNA change (hg38) |
g.54664250del |
Published as |
- |
ISCN |
- |
DB-ID |
PCDH15_000070 |
Variant remarks |
heterozygous |
Reference |
PubMed: Ouyang 2005 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Anne-Françoise Roux |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anne-Françoise Roux |
Date created |
2010-03-05 11:21:07 +01:00 (CET) |
Date last edited |
2020-06-26 15:35:52 +02:00 (CEST) |

Variant on transcripts
Screenings
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