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NM_206933:p.Ser2196Thr

USH2A
NM_206933:c.6587G>C

Information

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

Call

Variation chr1:216172299:C>G
Pathogenicity Possible highly penetrant allele
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Possibly Damaging Unknown Disease Causing Conserved Conserved
0.7 0.799 0.005229 0.695102 1.333 3.67

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

3/8600
European American Alternate Allele Count

524/4406
African American Alternate Allele Count
1000 Genomes
European

1/132
Utah residents, Northern and Western European ancestry

(No data)
Toscani in Italia

1/136
British from England and Scotland

(No data)
Finnish from Finland

1/116
Iberian populations in Spain
 
East Asian

(No data)
Han Chinese in Beijing, China

(No data)
Japanese in Toyko, Japan

(No data)
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

1/116
Iberian populations in Spain

(No data)
Kinh in Ho Chi Minh City, Vietnam
West African

29/162
Yoruba in Ibadan, Nigeria

7/48
Luhya in Webuye, Kenya
 
Americas

14/98
African Ancestry in Southwest US

15/110
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

3/140
Puerto Rican in Puerto Rico

1/96
Colombian in Medellin, Colombia

(No data)
Peruvian in Lima, Peru
South Asian

(No data)
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 -- 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/246
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