PDF

NM_001034853:p.Ala388Ala

RPGR
NM_001034853:c.1164G>A

Information

Variant Locale EXON10
PubMed ID (no data)
dbSNP ID rs1801686

Call

Variation chrX:38158290:C>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Unknown Unknown Unknown Unknown Non-conserved Non-conserved
-1.756 -9.12

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1041/6728
European American Alternate Allele Count

263/3833
African American Alternate Allele Count
1000 Genomes
European

16/132
Utah residents, Northern and Western European ancestry

13/122
Toscani in Italia

31/136
British from England and Scotland

39/162
Finnish from Finland

14/116
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

14/116
Iberian populations in Spain

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

7/162
Yoruba in Ibadan, Nigeria

4/48
Luhya in Webuye, Kenya
 
Americas

5/98
African Ancestry in Southwest US

8/110
African Caribbean in Barbados

2/116
Mexican Ancestry in Los Angeles, CA

12/140
Puerto Rican in Puerto Rico

10/96
Colombian in Medellin, Colombia

(No data)
Peruvian in Lima, Peru
South Asian

3/152
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: retinitis pigmentosa GTPase regulator | Function description: Could be a guanine-nucleotide releasing factor. Play a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. | Disease description: Defects in RPGR are a cause of macular degeneration X- linked atrophic (MDXLA) [MIM:300834]. MDXLA is an ocular disorder characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full- field electroretinograms (ERGs) show normal cone and rod responses in some affected males despite advanced macular degeneration.

http://vvd.eng.uiowa.edu/variant/2101
© 2011–2017 The Institute for Vision Research at The University of Iowa