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NM_206933:p.Ile2169Thr

USH2A
NM_206933:c.6506T>C

Information

Variant Locale EXON34
PubMed ID (no data)
dbSNP ID rs10864219

Call

Variation chr1:216172380:A>G
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism (Automatic) Conserved Conserved
0.65 0.094 0.588593 4.1e-05 2.199 5.77

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

4323/8600
European American Alternate Allele Count

1932/4406
African American Alternate Allele Count
1000 Genomes
European

59/132
Utah residents, Northern and Western European ancestry

73/122
Toscani in Italia

64/136
British from England and Scotland

83/162
Finnish from Finland

57/116
Iberian populations in Spain
 
East Asian

119/146
Han Chinese in Beijing, China

130/148
Japanese in Toyko, Japan

148/180
Han Chinese South

119/146
Chinese Dai in Xishuangbanna

57/116
Iberian populations in Spain

121/148
Kinh in Ho Chi Minh City, Vietnam
West African

73/162
Yoruba in Ibadan, Nigeria

17/48
Luhya in Webuye, Kenya
 
Americas

40/98
African Ancestry in Southwest US

51/110
African Caribbean in Barbados

74/116
Mexican Ancestry in Los Angeles, CA

81/140
Puerto Rican in Puerto Rico

62/96
Colombian in Medellin, Colombia

79/94
Peruvian in Lima, Peru
South Asian

89/154
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: rs17584229, rs52809712, rs56928409, rs10864219 | 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/247
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