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NM_001034853:p.Val1144Ile

RPGR
NM_001034853:c.3430G>A

Information

Variant Locale EXON15
PubMed ID (no data)
dbSNP ID rs12688514

Call

Variation chrX:38144822:C>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Damaging Possibly Damaging Unknown Polymorphism (Automatic) Non-conserved Conserved
0 0.799 5e-06 0.649 2.72

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

582/6728
European American Alternate Allele Count

70/3833
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

48/146
Han Chinese in Beijing, China

70/148
Japanese in Toyko, Japan

56/180
Han Chinese South

54/146
Chinese Dai in Xishuangbanna

6/116
Iberian populations in Spain

50/148
Kinh in Ho Chi Minh City, Vietnam
West African

(No data)
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

1/98
African Ancestry in Southwest US

(No data)
African Caribbean in Barbados

19/116
Mexican Ancestry in Los Angeles, CA

20/140
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, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs12688514 | 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/2085
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