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NM_000180:p.Pro701Ser

GUCY2D
NM_000180:c.2101C>T

Information

Variant Locale EXON10
PubMed ID (no data)
dbSNP ID rs34598902

Call

Variation chr17:7915912:C>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Possibly Damaging Deleterious Polymorphism Conserved Conserved
0.45 0.792 0.000152 0.308384 1.494 4.37

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

165/8600
European American Alternate Allele Count

171/4406
African American Alternate Allele Count
1000 Genomes
European

1/132
Utah residents, Northern and Western European ancestry

2/122
Toscani in Italia

4/136
British from England and Scotland

4/162
Finnish from Finland

2/116
Iberian populations in Spain
 
East Asian

33/146
Han Chinese in Beijing, China

34/148
Japanese in Toyko, Japan

46/180
Han Chinese South

24/146
Chinese Dai in Xishuangbanna

2/116
Iberian populations in Spain

42/148
Kinh in Ho Chi Minh City, Vietnam
West African

7/162
Yoruba in Ibadan, Nigeria

1/48
Luhya in Webuye, Kenya
 
Americas

4/98
African Ancestry in Southwest US

2/110
African Caribbean in Barbados

5/116
Mexican Ancestry in Los Angeles, CA

6/140
Puerto Rican in Puerto Rico

2/96
Colombian in Medellin, Colombia

8/94
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 -- 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/1512
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