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NM_020366:p.Pro599Pro

RPGRIP1
NM_020366:c.1797G>A

Information

Variant Locale EXON14
PubMed ID (no data)
dbSNP ID rs9322965

Call

Variation chr14:21792811:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Unknown Polymorphism (Automatic) Non-conserved Conserved
0.19 0.001 0.000191 0.534 3.17

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1996/8290
European American Alternate Allele Count

835/3946
African American Alternate Allele Count
1000 Genomes
European

19/108
Utah residents, Northern and Western European ancestry

23/104
Toscani in Italia

20/98
British from England and Scotland

33/104
Finnish from Finland

19/76
Iberian populations in Spain
 
East Asian

1/84
Han Chinese in Beijing, China

2/136
Japanese in Toyko, Japan

(No data)
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

19/76
Iberian populations in Spain

2/106
Kinh in Ho Chi Minh City, Vietnam
West African

45/144
Yoruba in Ibadan, Nigeria

14/48
Luhya in Webuye, Kenya
 
Americas

25/98
African Ancestry in Southwest US

18/100
African Caribbean in Barbados

14/116
Mexican Ancestry in Los Angeles, CA

24/122
Puerto Rican in Puerto Rico

16/84
Colombian in Medellin, Colombia

6/80
Peruvian in Lima, Peru
South Asian

32/142
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs59052867, rs9322965 | 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/1267
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