Full data view for gene CRYGD

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006891.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 2 c.51T>C r.(?) p.(=) Parent #2 - benign g.208989037A>G g.208124313A>G T51C - CRYGD_000007 not seggregating with disease - - rs2242074 Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - Mongolia Asian, central; white - 0 - - 1 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Unknown - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 7/11 families tested PubMed: Santana 2009 - rs2242074 Germline - 07/11/15 - 0 - DNA SEQ - - CTRCT - - - - - Brazil - - 0 - - 7 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Unknown - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 - PubMed: Santhiya 2004 - rs2242074 Germline - - - 0 - DNA SEQ - - CTRCT - - family, 1 affected - - India - - 0 - - 1 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Unknown - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 - PubMed: Santana 2009 - rs2242074 Germline - - - 0 - DNA SEQ - - CTRCT - - affected father, dauther and son - - Brazil - - 0 - - 3 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Unknown - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 variant in family PubMed: Santana 2009 - rs2242074 Germline - - - 0 - DNA SEQ - - CTRCT - - - - - Brazil - - 0 - - 5 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Unknown - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 - PubMed: Santhiya 2004 - rs2242074 Germline - - - 0 - DNA SEQ - - CTRCT - - 3-generation family, 6 affecteds - - India - - 0 - - 1 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Unknown - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 - PubMed: Santhiya 2004 - rs2242074 Germline - - - 0 - DNA SEQ - - CTRCT - - family, 3 affecteds - - India - - 0 - - 1 Johan den Dunnen
-/. 2 c.51T>C r.(?) p.(=) Unknown - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 - PubMed: Santhiya 2004 - rs2242074 Germline - - - 0 - DNA SEQ - - CTRCT - - family, 2 affecteds - - India - - 0 - - 1 Johan den Dunnen
-/. - c.51T>C r.(?) p.(Tyr17=) Unknown - benign g.208989037A>G g.208124313A>G CRYGD(NM_006891.4):c.51T>C (p.Y17=), LOC100507443(NR_038437.1):n.97+5088A>G - CRYGD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.51T>C r.(?) p.(Tyr17=) Unknown - benign g.208989037A>G g.208124313A>G CRYGD(NM_006891.4):c.51T>C (p.Y17=), LOC100507443(NR_038437.1):n.97+5088A>G - CRYGD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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Amino acid numbering includes the N-terminal methionine as number 1. Most annotations of CRYGD are numbered from Gly at position 2, corresponding to the processed N-terminal methionine-lacking CRYGD-protein