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NM_001298:p.Asp24Asp

CNGA3
NM_001298:c.72T>C

Information

Variant Locale EXON2
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr2:98986510:T>C
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

1522/8600
European American Alternate Allele Count

478/4406
African American Alternate Allele Count
1000 Genomes
European

24/132
Utah residents, Northern and Western European ancestry

22/122
Toscani in Italia

23/136
British from England and Scotland

12/162
Finnish from Finland

18/116
Iberian populations in Spain
 
East Asian

(No data)
Han Chinese in Beijing, China

1/148
Japanese in Toyko, Japan

(No data)
Han Chinese South

2/146
Chinese Dai in Xishuangbanna

18/116
Iberian populations in Spain

5/148
Kinh in Ho Chi Minh City, Vietnam
West African

18/162
Yoruba in Ibadan, Nigeria

3/48
Luhya in Webuye, Kenya
 
Americas

4/98
African Ancestry in Southwest US

4/110
African Caribbean in Barbados

7/116
Mexican Ancestry in Los Angeles, CA

23/140
Puerto Rican in Puerto Rico

13/96
Colombian in Medellin, Colombia

7/94
Peruvian in Lima, Peru
South Asian

18/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/1617
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