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NM_001034853:p.Asn1132Asn

RPGR
NM_001034853:c.3396C>T

Information

Variant Locale EXON15
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chrX:38144856:G>A
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

583/6728
European American Alternate Allele Count

402/3833
African American Alternate Allele Count
1000 Genomes
European

5/132
Utah residents, Northern and Western European ancestry

7/122
Toscani in Italia

12/136
British from England and Scotland

21/162
Finnish from Finland

6/116
Iberian populations in Spain
 
East Asian

80/146
Han Chinese in Beijing, China

94/148
Japanese in Toyko, Japan

98/180
Han Chinese South

89/146
Chinese Dai in Xishuangbanna

6/116
Iberian populations in Spain

81/148
Kinh in Ho Chi Minh City, Vietnam
West African

19/162
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

7/98
African Ancestry in Southwest US

14/110
African Caribbean in Barbados

19/116
Mexican Ancestry in Los Angeles, CA

22/140
Puerto Rican in Puerto Rico

16/96
Colombian in Medellin, Colombia

27/94
Peruvian in Lima, Peru
South Asian

51/152
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/2086
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