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NM_033056:p.Gly380Ser

PCDH15
NM_033056:c.1138G>A

Information

Variant Locale EXON11
PubMed ID (no data)
dbSNP ID rs10825269

Call

Variation chr10:55955610:C>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Unknown Polymorphism (Automatic) Non-conserved Conserved
0.93 0.017 6e-06 0.823 5.17

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1101/8600
European American Alternate Allele Count

1947/4406
African American Alternate Allele Count
1000 Genomes
European

14/132
Utah residents, Northern and Western European ancestry

25/122
Toscani in Italia

18/136
British from England and Scotland

17/162
Finnish from Finland

14/116
Iberian populations in Spain
 
East Asian

13/146
Han Chinese in Beijing, China

4/148
Japanese in Toyko, Japan

22/180
Han Chinese South

13/146
Chinese Dai in Xishuangbanna

14/116
Iberian populations in Spain

14/148
Kinh in Ho Chi Minh City, Vietnam
West African

98/162
Yoruba in Ibadan, Nigeria

19/48
Luhya in Webuye, Kenya
 
Americas

40/98
African Ancestry in Southwest US

53/110
African Caribbean in Barbados

16/116
Mexican Ancestry in Los Angeles, CA

29/140
Puerto Rican in Puerto Rico

19/96
Colombian in Medellin, Colombia

23/94
Peruvian in Lima, Peru
South Asian

37/152
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: rs52818022, rs59807776, rs10825269 | 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/887
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