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RPGRIP1
NM_020366:c.2215+7G>A

Information

Variant Locale INTRON14
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr14:21793236:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Unknown Unknown Unknown Unknown Unknown Unknown

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1964/8316
European American Alternate Allele Count

659/3930
African American Alternate Allele Count
1000 Genomes
European

19/106
Utah residents, Northern and Western European ancestry

19/92
Toscani in Italia

17/90
British from England and Scotland

30/104
Finnish from Finland

22/78
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

22/78
Iberian populations in Spain

1/92
Kinh in Ho Chi Minh City, Vietnam
West African

30/140
Yoruba in Ibadan, Nigeria

12/48
Luhya in Webuye, Kenya
 
Americas

23/98
African Ancestry in Southwest US

11/88
African Caribbean in Barbados

11/116
Mexican Ancestry in Los Angeles, CA

20/110
Puerto Rican in Puerto Rico

12/80
Colombian in Medellin, Colombia

5/68
Peruvian in Lima, Peru
South Asian

26/148
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes.

http://vvd.eng.uiowa.edu/variant/1268
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