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NM_206933:p.Glu3411Ala

USH2A
NM_206933:c.10232A>C

Information

Variant Locale EXON52
PubMed ID (no data)
dbSNP ID rs10864198

Call

Variation chr1:215960167:T>G
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism (Automatic) Conserved Conserved
1 0 0.000427 6e-06 1.04 4.88

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

4462/8600
European American Alternate Allele Count

2959/4406
African American Alternate Allele Count
1000 Genomes
European

71/132
Utah residents, Northern and Western European ancestry

70/122
Toscani in Italia

68/136
British from England and Scotland

89/162
Finnish from Finland

63/116
Iberian populations in Spain
 
East Asian

95/146
Han Chinese in Beijing, China

104/148
Japanese in Toyko, Japan

119/180
Han Chinese South

87/146
Chinese Dai in Xishuangbanna

63/116
Iberian populations in Spain

96/148
Kinh in Ho Chi Minh City, Vietnam
West African

120/162
Yoruba in Ibadan, Nigeria

36/48
Luhya in Webuye, Kenya
 
Americas

64/98
African Ancestry in Southwest US

80/110
African Caribbean in Barbados

58/116
Mexican Ancestry in Los Angeles, CA

74/140
Puerto Rican in Puerto Rico

38/96
Colombian in Medellin, Colombia

42/94
Peruvian in Lima, Peru
South Asian

81/154
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: rs52802661, rs59777001, rs10864198 | Gene full name: Usher syndrome 2A (autosomal recessive, mild) | Function description: Involved in hearing and vision. | Disease description: Defects in USH2A are the cause of retinitis pigmentosa type 39 (RP39) [MIM:613809]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP39 inheritance is autosomal recessive.

http://vvd.eng.uiowa.edu/variant/219
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