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NM_206933:p.Thr3115Ala

USH2A
NM_206933:c.9343A>G

Information

Variant Locale EXON47
PubMed ID (no data)
dbSNP ID rs56032526

Call

Variation chr1:216011361:T>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism Non-conserved Non-conserved
1 0 0.924686 0.001716 -1.017 -5.56

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

342/8600
European American Alternate Allele Count

54/4406
African American Alternate Allele Count
1000 Genomes
European

7/132
Utah residents, Northern and Western European ancestry

2/122
Toscani in Italia

8/136
British from England and Scotland

3/162
Finnish from Finland

5/116
Iberian populations in Spain
 
East Asian

24/146
Han Chinese in Beijing, China

19/148
Japanese in Toyko, Japan

25/180
Han Chinese South

27/146
Chinese Dai in Xishuangbanna

5/116
Iberian populations in Spain

36/148
Kinh in Ho Chi Minh City, Vietnam
West African

(No data)
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

1/98
African Ancestry in Southwest US

(No data)
African Caribbean in Barbados

7/116
Mexican Ancestry in Los Angeles, CA

6/140
Puerto Rican in Puerto Rico

1/96
Colombian in Medellin, Colombia

11/94
Peruvian in Lima, Peru
South Asian

13/154
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, OtoSCOPE, dbNSFP 2. Additional info from dbNSFP 2 -- 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/226
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