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NM_000180:p.Val373Val

GUCY2D
NM_000180:c.1119G>A

Information

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

Call

Variation chr17:7909773: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

217/8598
European American Alternate Allele Count

20/4406
African American Alternate Allele Count
1000 Genomes
European

1/132
Utah residents, Northern and Western European ancestry

1/122
Toscani in Italia

1/134
British from England and Scotland

6/162
Finnish from Finland

2/116
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

2/116
Iberian populations in Spain

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

(No data)
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

(No data)
African Ancestry in Southwest US

1/110
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

1/140
Puerto Rican in Puerto Rico

5/96
Colombian in Medellin, Colombia

2/94
Peruvian in Lima, Peru
South Asian

1/152
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/1487
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