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NM_000322:p.Val106Val

PRPH2
NM_000322:c.318T>C

Information

Variant Locale EXON1
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr6:42689755:A>G
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

5015/8600
European American Alternate Allele Count

2877/4406
African American Alternate Allele Count
1000 Genomes
European

78/132
Utah residents, Northern and Western European ancestry

75/122
Toscani in Italia

70/136
British from England and Scotland

104/162
Finnish from Finland

74/116
Iberian populations in Spain
 
East Asian

90/146
Han Chinese in Beijing, China

54/148
Japanese in Toyko, Japan

103/180
Han Chinese South

86/146
Chinese Dai in Xishuangbanna

74/116
Iberian populations in Spain

93/148
Kinh in Ho Chi Minh City, Vietnam
West African

101/162
Yoruba in Ibadan, Nigeria

32/48
Luhya in Webuye, Kenya
 
Americas

64/98
African Ancestry in Southwest US

77/110
African Caribbean in Barbados

72/116
Mexican Ancestry in Los Angeles, CA

80/140
Puerto Rican in Puerto Rico

53/96
Colombian in Medellin, Colombia

55/94
Peruvian in Lima, Peru
South Asian

71/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/1989
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