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NM_000261:p.Arg76Lys

MYOC
NM_000261:c.227G>A

Information

Variant Locale EXON1
PubMed ID (no data)
dbSNP ID rs2234926

Call

Variation chr1:171621525:C>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Damaging Probably Damaging Neutral Polymorphism Non-conserved Conserved
0.03 0.984 3.7e-05 0.006333 0.332 3.43

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1155/8600
European American Alternate Allele Count

122/4406
African American Alternate Allele Count
1000 Genomes
European

13/132
Utah residents, Northern and Western European ancestry

18/122
Toscani in Italia

15/136
British from England and Scotland

32/162
Finnish from Finland

14/116
Iberian populations in Spain
 
East Asian

4/146
Han Chinese in Beijing, China

3/148
Japanese in Toyko, Japan

13/180
Han Chinese South

18/146
Chinese Dai in Xishuangbanna

14/116
Iberian populations in Spain

15/148
Kinh in Ho Chi Minh City, Vietnam
West African

1/162
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

5/98
African Ancestry in Southwest US

2/110
African Caribbean in Barbados

12/116
Mexican Ancestry in Los Angeles, CA

16/140
Puerto Rican in Puerto Rico

4/96
Colombian in Medellin, Colombia

15/94
Peruvian in Lima, Peru
South Asian

59/154
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: myocilin, trabecular meshwork inducible glucocorticoid response | Function description: May participate in the obstruction of fluid outflow in the trabecular meshwork. | Disease description: Defects in MYOC are a cause of primary congenital glaucoma type 3A (GLC3A) [MIM:231300]. An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early choldhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. Note=MYOC variations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease.

http://vvd.eng.uiowa.edu/variant/47
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