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NM_000180:p.Leu782His

GUCY2D
NM_000180:c.2345T>A

Information

Variant Locale EXON12
PubMed ID (no data)
dbSNP ID rs8069344

Call

Variation chr17:7917279:T>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism (Automatic) Non-conserved Conserved
0.31 0 0.079134 5.6e-05 0.487 3.12

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1078/8600
European American Alternate Allele Count

1740/4406
African American Alternate Allele Count
1000 Genomes
European

14/132
Utah residents, Northern and Western European ancestry

6/122
Toscani in Italia

16/136
British from England and Scotland

25/162
Finnish from Finland

4/114
Iberian populations in Spain
 
East Asian

(No data)
Han Chinese in Beijing, China

(No data)
Japanese in Toyko, Japan

(No data)
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

4/114
Iberian populations in Spain

(No data)
Kinh in Ho Chi Minh City, Vietnam
West African

64/162
Yoruba in Ibadan, Nigeria

25/48
Luhya in Webuye, Kenya
 
Americas

44/98
African Ancestry in Southwest US

46/110
African Caribbean in Barbados

5/116
Mexican Ancestry in Los Angeles, CA

18/140
Puerto Rican in Puerto Rico

11/96
Colombian in Medellin, Colombia

5/94
Peruvian in Lima, Peru
South Asian

17/152
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs52837515, rs61623443, rs8069344 | 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/1533
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