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PCDH15
NM_033056:c.157+3A>G

Information

Variant Locale INTRON3
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr10:56287569:T>C
Pathogenicity Probable highly penetrant allele
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Unknown Unknown Unknown Unknown Unknown Unknown

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

671/8600
European American Alternate Allele Count

614/4406
African American Alternate Allele Count
1000 Genomes
European

14/132
Utah residents, Northern and Western European ancestry

9/122
Toscani in Italia

14/136
British from England and Scotland

10/162
Finnish from Finland

11/116
Iberian populations in Spain
 
East Asian

14/146
Han Chinese in Beijing, China

16/148
Japanese in Toyko, Japan

14/180
Han Chinese South

15/146
Chinese Dai in Xishuangbanna

11/116
Iberian populations in Spain

12/148
Kinh in Ho Chi Minh City, Vietnam
West African

24/162
Yoruba in Ibadan, Nigeria

4/48
Luhya in Webuye, Kenya
 
Americas

14/98
African Ancestry in Southwest US

9/110
African Caribbean in Barbados

9/116
Mexican Ancestry in Los Angeles, CA

8/140
Puerto Rican in Puerto Rico

9/96
Colombian in Medellin, Colombia

8/94
Peruvian in Lima, Peru
South Asian

6/154
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, OtoSCOPE.

http://vvd.eng.uiowa.edu/variant/896
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