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NM_206933:p.Thr4222Thr

USH2A
NM_206933:c.12666A>G

Information

Variant Locale EXON63
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr1:215848587:T>C
Pathogenicity Benign
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

3357/8600
European American Alternate Allele Count

983/4406
African American Alternate Allele Count
1000 Genomes
European

54/132
Utah residents, Northern and Western European ancestry

44/122
Toscani in Italia

63/136
British from England and Scotland

64/162
Finnish from Finland

46/116
Iberian populations in Spain
 
East Asian

41/146
Han Chinese in Beijing, China

31/148
Japanese in Toyko, Japan

60/180
Han Chinese South

46/146
Chinese Dai in Xishuangbanna

46/116
Iberian populations in Spain

66/148
Kinh in Ho Chi Minh City, Vietnam
West African

27/162
Yoruba in Ibadan, Nigeria

11/48
Luhya in Webuye, Kenya
 
Americas

27/98
African Ancestry in Southwest US

25/110
African Caribbean in Barbados

53/116
Mexican Ancestry in Los Angeles, CA

57/140
Puerto Rican in Puerto Rico

41/96
Colombian in Medellin, Colombia

52/94
Peruvian in Lima, Peru
South Asian

40/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/190
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