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NM_001034853:p.Glu741Glu

RPGR
NM_001034853:c.2223G>A

Information

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

Call

Variation chrX:38146029:C>T
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

301/6483
European American Alternate Allele Count

516/3660
African American Alternate Allele Count
1000 Genomes
European

3/128
Utah residents, Northern and Western European ancestry

10/122
Toscani in Italia

5/132
British from England and Scotland

21/156
Finnish from Finland

8/116
Iberian populations in Spain
 
East Asian

9/146
Han Chinese in Beijing, China

12/146
Japanese in Toyko, Japan

9/174
Han Chinese South

6/146
Chinese Dai in Xishuangbanna

8/116
Iberian populations in Spain

13/140
Kinh in Ho Chi Minh City, Vietnam
West African

17/158
Yoruba in Ibadan, Nigeria

8/48
Luhya in Webuye, Kenya
 
Americas

15/94
African Ancestry in Southwest US

16/102
African Caribbean in Barbados

31/114
Mexican Ancestry in Los Angeles, CA

(No data)
Puerto Rican in Puerto Rico

12/92
Colombian in Medellin, Colombia

26/92
Peruvian in Lima, Peru
South Asian

18/140
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/2091
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