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NM_000390:p.Ala117Ala

CHM
NM_000390:c.351A>G

Information

Variant Locale EXON5
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chrX:85219021: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

1639/6728
European American Alternate Allele Count

150/3835
African American Alternate Allele Count
1000 Genomes
European

27/132
Utah residents, Northern and Western European ancestry

33/122
Toscani in Italia

37/136
British from England and Scotland

26/162
Finnish from Finland

35/116
Iberian populations in Spain
 
East Asian

27/146
Han Chinese in Beijing, China

30/148
Japanese in Toyko, Japan

24/180
Han Chinese South

14/146
Chinese Dai in Xishuangbanna

35/116
Iberian populations in Spain

19/148
Kinh in Ho Chi Minh City, Vietnam
West African

(No data)
Yoruba in Ibadan, Nigeria

1/48
Luhya in Webuye, Kenya
 
Americas

7/98
African Ancestry in Southwest US

3/110
African Caribbean in Barbados

24/116
Mexican Ancestry in Los Angeles, CA

29/140
Puerto Rican in Puerto Rico

11/96
Colombian in Medellin, Colombia

3/94
Peruvian in Lima, Peru
South Asian

6/152
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/2145
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