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NM_001034853:p.Ile431Val

RPGR
NM_001034853:c.1291A>G

Information

Variant Locale EXON11
PubMed ID (no data)
dbSNP ID rs62635003

Call

Variation chrX:38156660:T>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism Non-conserved Non-conserved
0.31 0.022 0.104174 0.000338 -3.606 -9.5

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

144/6728
European American Alternate Allele Count

434/3833
African American Alternate Allele Count
1000 Genomes
European

2/132
Utah residents, Northern and Western European ancestry

2/122
Toscani in Italia

2/136
British from England and Scotland

14/162
Finnish from Finland

6/116
Iberian populations in Spain
 
East Asian

9/146
Han Chinese in Beijing, China

13/148
Japanese in Toyko, Japan

10/180
Han Chinese South

6/146
Chinese Dai in Xishuangbanna

6/116
Iberian populations in Spain

15/148
Kinh in Ho Chi Minh City, Vietnam
West African

18/162
Yoruba in Ibadan, Nigeria

4/48
Luhya in Webuye, Kenya
 
Americas

16/98
African Ancestry in Southwest US

16/110
African Caribbean in Barbados

33/116
Mexican Ancestry in Los Angeles, CA

11/140
Puerto Rican in Puerto Rico

11/96
Colombian in Medellin, Colombia

28/94
Peruvian in Lima, Peru
South Asian

23/152
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/2099
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