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NM_033056:p.Asp435Ala

PCDH15
NM_033056:c.1304A>C

Information

Variant Locale EXON11
PubMed ID (no data)
dbSNP ID rs4935502

Call

Variation chr10:55955444:T>G
Pathogenicity
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Probably Damaging Unknown Polymorphism (Automatic) Conserved Conserved
0.07 0.986 0.819915 1.918 5.07

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1133/8600
European American Alternate Allele Count

579/4406
African American Alternate Allele Count
1000 Genomes
European

12/132
Utah residents, Northern and Western European ancestry

11/122
Toscani in Italia

19/136
British from England and Scotland

25/162
Finnish from Finland

17/116
Iberian populations in Spain
 
East Asian

125/146
Han Chinese in Beijing, China

137/148
Japanese in Toyko, Japan

146/180
Han Chinese South

122/146
Chinese Dai in Xishuangbanna

17/116
Iberian populations in Spain

116/148
Kinh in Ho Chi Minh City, Vietnam
West African

23/162
Yoruba in Ibadan, Nigeria

6/48
Luhya in Webuye, Kenya
 
Americas

14/98
African Ancestry in Southwest US

13/110
African Caribbean in Barbados

37/116
Mexican Ancestry in Los Angeles, CA

23/140
Puerto Rican in Puerto Rico

25/96
Colombian in Medellin, Colombia

31/94
Peruvian in Lima, Peru
South Asian

60/154
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, OtoSCOPE, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs52792713, rs58556608, rs4935502 | Gene full name: protocadherin-related 15 | Function description: Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function. | Disease description: Defects in PCDH15 are the cause of deafness autosomal recessive type 23 (DFNB23) [MIM:609533]. DFNB23 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

http://vvd.eng.uiowa.edu/variant/885
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