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NM_033056:p.Ser19Ala

PCDH15
NM_033056:c.55T>G

Information

Variant Locale EXON2
PubMed ID (no data)
dbSNP ID rs11004439

Call

Variation chr10:56423968:A>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Unknown Polymorphism (Automatic) Non-conserved Conserved
0.09 0.033 6.1e-05 0.451 0.635

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

2148/8600
European American Alternate Allele Count

662/4406
African American Alternate Allele Count
1000 Genomes
European

34/132
Utah residents, Northern and Western European ancestry

42/122
Toscani in Italia

36/136
British from England and Scotland

24/162
Finnish from Finland

23/116
Iberian populations in Spain
 
East Asian

25/146
Han Chinese in Beijing, China

14/148
Japanese in Toyko, Japan

31/180
Han Chinese South

20/146
Chinese Dai in Xishuangbanna

23/116
Iberian populations in Spain

23/148
Kinh in Ho Chi Minh City, Vietnam
West African

28/162
Yoruba in Ibadan, Nigeria

7/48
Luhya in Webuye, Kenya
 
Americas

15/98
African Ancestry in Southwest US

12/110
African Caribbean in Barbados

35/116
Mexican Ancestry in Los Angeles, CA

39/140
Puerto Rican in Puerto Rico

26/96
Colombian in Medellin, Colombia

28/94
Peruvian in Lima, Peru
South Asian

20/154
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: rs17500214, rs52833921, rs61191357, rs11004439 | 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/897
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