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NM_033056:p.Glu346Stop

PCDH15
NM_033056:c.1036G>T

Information

Variant Locale EXON10
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr10:55973758:C>A
Pathogenicity Probable highly penetrant allele
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Unknown Unknown Disease Causing (Automatic) Conserved Conserved
0.1 1 2.471 4.99

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

(No data)
European American Alternate Allele Count

(No data)
African American Alternate Allele Count
1000 Genomes
European

(No data)
Utah residents, Northern and Western European ancestry

(No data)
Toscani in Italia

(No data)
British from England and Scotland

(No data)
Finnish from Finland

(No data)
Iberian populations in Spain
 
East Asian

(No data)
Han Chinese in Beijing, China

(No data)
Japanese in Toyko, Japan

(No data)
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

(No data)
Iberian populations in Spain

(No data)
Kinh in Ho Chi Minh City, Vietnam
West African

(No data)
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

(No data)
African Ancestry in Southwest US

(No data)
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

(No data)
Puerto Rican in Puerto Rico

(No data)
Colombian in Medellin, Colombia

(No data)
Peruvian in Lima, Peru
South Asian

(No data)
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: dbNSFP 2. Additional info from dbNSFP 2 -- 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/889
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