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NM_005906:p.His610His

MAK
NM_005906:c.1830T>C

Information

Variant Locale EXON14
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr6:10764727:A>G
Pathogenicity
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

6614/8600
European American Alternate Allele Count

4107/4406
African American Alternate Allele Count
1000 Genomes
European

108/132
Utah residents, Northern and Western European ancestry

92/122
Toscani in Italia

100/136
British from England and Scotland

140/162
Finnish from Finland

95/116
Iberian populations in Spain
 
East Asian

133/146
Han Chinese in Beijing, China

133/148
Japanese in Toyko, Japan

166/180
Han Chinese South

133/146
Chinese Dai in Xishuangbanna

95/116
Iberian populations in Spain

132/148
Kinh in Ho Chi Minh City, Vietnam
West African

155/162
Yoruba in Ibadan, Nigeria

46/48
Luhya in Webuye, Kenya
 
Americas

91/98
African Ancestry in Southwest US

106/110
African Caribbean in Barbados

93/116
Mexican Ancestry in Los Angeles, CA

111/140
Puerto Rican in Puerto Rico

68/96
Colombian in Medellin, Colombia

78/94
Peruvian in Lima, Peru
South Asian

129/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/1911
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