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NM_000541:p.Ala163Ala

SAG
NM_000541:c.489C>T

Information

Variant Locale EXON7
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr2:234235820:C>T
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

874/8392
European American Alternate Allele Count

745/4124
African American Alternate Allele Count
1000 Genomes
European

8/118
Utah residents, Northern and Western European ancestry

7/110
Toscani in Italia

12/112
British from England and Scotland

22/134
Finnish from Finland

8/94
Iberian populations in Spain
 
East Asian

(No data)
Han Chinese in Beijing, China

3/134
Japanese in Toyko, Japan

6/112
Han Chinese South

6/94
Chinese Dai in Xishuangbanna

8/94
Iberian populations in Spain

4/106
Kinh in Ho Chi Minh City, Vietnam
West African

40/156
Yoruba in Ibadan, Nigeria

4/48
Luhya in Webuye, Kenya
 
Americas

23/98
African Ancestry in Southwest US

14/102
African Caribbean in Barbados

4/116
Mexican Ancestry in Los Angeles, CA

11/130
Puerto Rican in Puerto Rico

8/86
Colombian in Medellin, Colombia

5/84
Peruvian in Lima, Peru
South Asian

7/150
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/1615
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