PDF

NM_020366:p.Glu1033Gln

RPGRIP1
NM_020366:c.3097G>C

Information

Variant Locale EXON18
PubMed ID (no data)
dbSNP ID rs3748361

Call

Variation chr14:21796784:G>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism (Automatic) Conserved Conserved
0.9 0 0.607627 0.001333 1.233 1.79

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

2888/8216
European American Alternate Allele Count

265/3738
African American Alternate Allele Count
1000 Genomes
European

36/104
Utah residents, Northern and Western European ancestry

30/98
Toscani in Italia

31/92
British from England and Scotland

43/96
Finnish from Finland

24/72
Iberian populations in Spain
 
East Asian

26/66
Han Chinese in Beijing, China

48/128
Japanese in Toyko, Japan

29/66
Han Chinese South

23/46
Chinese Dai in Xishuangbanna

24/72
Iberian populations in Spain

39/92
Kinh in Ho Chi Minh City, Vietnam
West African

(No data)
Yoruba in Ibadan, Nigeria

1/48
Luhya in Webuye, Kenya
 
Americas

8/98
African Ancestry in Southwest US

8/88
African Caribbean in Barbados

22/116
Mexican Ancestry in Los Angeles, CA

33/116
Puerto Rican in Puerto Rico

18/76
Colombian in Medellin, Colombia

17/72
Peruvian in Lima, Peru
South Asian

74/142
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: rs17254729, rs52805987, rs3748361 | 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/1291
© 2011–2017 The Institute for Vision Research at The University of Iowa