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NM_020366:p.Arg867Gln

RPGRIP1
NM_020366:c.2600G>A

Information

Variant Locale EXON16
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr14:21794222:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism Non-conserved Non-conserved
0.63 0.001 0.119679 0.095324 -0.188 -1.62

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1/8276
European American Alternate Allele Count

0/3910
African American Alternate Allele Count
1000 Genomes
European

(No data)
Utah residents, Northern and Western European ancestry

(No data)
Toscani in Italia

(No data)
British from England and Scotland

(No data)
Finnish from Finland

(No data)
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

(No data)
Iberian populations in Spain

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

(No data)
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

(No data)
African Ancestry in Southwest US

(No data)
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

(No data)
Puerto Rican in Puerto Rico

(No data)
Colombian in Medellin, Colombia

(No data)
Peruvian in Lima, Peru
South Asian

(No data)
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: retinitis pigmentosa GTPase regulator interacting protein 1 | Function description: Essential for RPGR function and is also required for normal disk morphogenesis (By similarity). | Disease description: Note=Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons.

http://vvd.eng.uiowa.edu/variant/1282
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