Variant #0000374928 (NC_000010.10:g.55955610C>T, NM_033056.3:c.1138G>A (PCDH15))
Individual ID |
00166622 |
Chromosome |
10 |
Allele |
Maternal (inferred) |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.55955610C>T |
DNA change (hg38) |
g.54195850C>T |
Published as |
- |
ISCN |
- |
DB-ID |
PCDH15_000093 See all 5 reported entries |
Variant remarks |
homozygous; Neutral |
Reference |
PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d |
ClinVar ID |
- |
dbSNP ID |
rs10825269 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
+BsrI;-MspI;-HpaII;-BsrFI; |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.16168 View details |
Owner |
Maria Bitner-Glindzicz |
Database submission license |
No license selected |
Created by |
Maria Bitner-Glindzicz |
Date created |
2011-09-12 16:35:05 +02:00 (CEST) |
Date last edited |
2016-05-30 18:09:35 +02:00 (CEST) |

Variant on transcripts
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