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NM_000180:p.Ala52Ser

GUCY2D
NM_000180:c.154G>T

Information

Variant Locale EXON2
PubMed ID (no data)
dbSNP ID rs61749665

Call

Variation chr17:7906519:G>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism Non-conserved Conserved
0.72 0.168 0.37872 0.013392 -0.193 0.187

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1601/6582
European American Alternate Allele Count

396/3132
African American Alternate Allele Count
1000 Genomes
European

20/86
Utah residents, Northern and Western European ancestry

28/74
Toscani in Italia

33/82
British from England and Scotland

33/74
Finnish from Finland

31/88
Iberian populations in Spain
 
East Asian

55/74
Han Chinese in Beijing, China

56/84
Japanese in Toyko, Japan

72/108
Han Chinese South

85/116
Chinese Dai in Xishuangbanna

31/88
Iberian populations in Spain

94/140
Kinh in Ho Chi Minh City, Vietnam
West African

11/118
Yoruba in Ibadan, Nigeria

3/26
Luhya in Webuye, Kenya
 
Americas

5/54
African Ancestry in Southwest US

7/88
African Caribbean in Barbados

32/76
Mexican Ancestry in Los Angeles, CA

26/84
Puerto Rican in Puerto Rico

19/52
Colombian in Medellin, Colombia

36/76
Peruvian in Lima, Peru
South Asian

77/122
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: guanylate cyclase 2D, membrane (retina-specific) | Function description: Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction. | Disease description: Defects in GUCY2D are the cause of cone-rod dystrophy type 6 (CORD6) [MIM:601777]. CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.

http://vvd.eng.uiowa.edu/variant/1453
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