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NM_020366:p.Pro96Gln

RPGRIP1
NM_020366:c.287C>A

Information

Variant Locale EXON3
PubMed ID (no data)
dbSNP ID rs1040904

Call

Variation chr14:21769193:C>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Unknown Non-conserved Non-conserved
1 0.007 0.017026 -0.161 -0.43

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

317/8132
European American Alternate Allele Count

204/3812
African American Alternate Allele Count
1000 Genomes
European

4/98
Utah residents, Northern and Western European ancestry

6/88
Toscani in Italia

2/82
British from England and Scotland

4/84
Finnish from Finland

1/58
Iberian populations in Spain
 
East Asian

(No data)
Han Chinese in Beijing, China

(No data)
Japanese in Toyko, Japan

2/52
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

1/58
Iberian populations in Spain

1/86
Kinh in Ho Chi Minh City, Vietnam
West African

3/134
Yoruba in Ibadan, Nigeria

4/48
Luhya in Webuye, Kenya
 
Americas

5/98
African Ancestry in Southwest US

1/88
African Caribbean in Barbados

29/116
Mexican Ancestry in Los Angeles, CA

8/106
Puerto Rican in Puerto Rico

7/76
Colombian in Medellin, Colombia

12/64
Peruvian in Lima, Peru
South Asian

1/142
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- 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/1251
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