PDF

NM_000180:p.Ala703Ala

GUCY2D
NM_000180:c.2109G>A

Information

Variant Locale EXON10
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr17:7915920: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

839/8600
European American Alternate Allele Count

829/4406
African American Alternate Allele Count
1000 Genomes
European

13/132
Utah residents, Northern and Western European ancestry

5/122
Toscani in Italia

14/136
British from England and Scotland

19/162
Finnish from Finland

2/116
Iberian populations in Spain
 
East Asian

1/146
Han Chinese in Beijing, China

(No data)
Japanese in Toyko, Japan

(No data)
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

2/116
Iberian populations in Spain

(No data)
Kinh in Ho Chi Minh City, Vietnam
West African

27/162
Yoruba in Ibadan, Nigeria

17/48
Luhya in Webuye, Kenya
 
Americas

26/98
African Ancestry in Southwest US

17/110
African Caribbean in Barbados

2/116
Mexican Ancestry in Los Angeles, CA

12/140
Puerto Rican in Puerto Rico

5/96
Colombian in Medellin, Colombia

3/94
Peruvian in Lima, Peru
South Asian

4/152
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/1513
© 2011–2017 The Institute for Vision Research at The University of Iowa