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NM_020366:p.Lys192Glu

RPGRIP1
NM_020366:c.574A>G

Information

Variant Locale EXON4
PubMed ID (no data)
dbSNP ID rs6571751

Call

Variation chr14:21770730:A>G
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Unknown Non-conserved Conserved
1 0 0.098365 0.668 3.11

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

4112/8252
European American Alternate Allele Count

1697/3788
African American Alternate Allele Count
1000 Genomes
European

45/94
Utah residents, Northern and Western European ancestry

57/100
Toscani in Italia

50/104
British from England and Scotland

51/92
Finnish from Finland

33/66
Iberian populations in Spain
 
East Asian

11/60
Han Chinese in Beijing, China

43/126
Japanese in Toyko, Japan

17/44
Han Chinese South

7/34
Chinese Dai in Xishuangbanna

33/66
Iberian populations in Spain

27/96
Kinh in Ho Chi Minh City, Vietnam
West African

64/138
Yoruba in Ibadan, Nigeria

28/48
Luhya in Webuye, Kenya
 
Americas

52/98
African Ancestry in Southwest US

41/92
African Caribbean in Barbados

62/116
Mexican Ancestry in Los Angeles, CA

59/112
Puerto Rican in Puerto Rico

42/80
Colombian in Medellin, Colombia

38/66
Peruvian in Lima, Peru
South Asian

79/138
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs52798683, rs59879033, rs6571751 | 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/1257
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