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NM_020366:p.Ala547Ser

RPGRIP1
NM_020366:c.1639G>T

Information

Variant Locale EXON13
PubMed ID (no data)
dbSNP ID rs61722408

Call

Variation chr14:21790040:G>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Probably Damaging Neutral Polymorphism Non-conserved Conserved
0.29 1 0.004147 0.013959 0.777 3.04

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

2017/8224
European American Alternate Allele Count

775/3782
African American Alternate Allele Count
1000 Genomes
European

20/100
Utah residents, Northern and Western European ancestry

23/98
Toscani in Italia

16/100
British from England and Scotland

27/102
Finnish from Finland

20/78
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

20/78
Iberian populations in Spain

2/90
Kinh in Ho Chi Minh City, Vietnam
West African

39/136
Yoruba in Ibadan, Nigeria

16/48
Luhya in Webuye, Kenya
 
Americas

24/98
African Ancestry in Southwest US

16/92
African Caribbean in Barbados

13/116
Mexican Ancestry in Los Angeles, CA

23/118
Puerto Rican in Puerto Rico

18/86
Colombian in Medellin, Colombia

7/74
Peruvian in Lima, Peru
South Asian

24/138
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 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/1262
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