Full data view for gene CRYGC

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_020989.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. 3 c.502C>T r.(?) p.(Arg168Trp) Parent #1 - pathogenic g.208992950G>A g.208128226G>A - - CRYGC_000003 - PubMed: Santhiya 2002, OMIM:var0003 - rs28931604 Germline - - - 0 - DNA SEQ - - CTRCT - - 4-generation family, mother and 2 children F - India - - 0 - - 3 Johan den Dunnen
+/. 3 c.502C>T r.(?) p.(Arg168Trp) Parent #1 - pathogenic g.208992950G>A g.208128226G>A - - CRYGC_000003 - PubMed: Gonzalez-Huerta 2007 - rs28931604 Germline - - - 0 - DNA SEQ - - CTRCT - - 4-generation family, 9 affecteds - - Mexico - - 0 - - 9 Johan den Dunnen
+/. 3 c.502C>T r.(?) p.(Arg168Trp) Parent #1 - pathogenic g.208992950G>A g.208128226G>A - - CRYGC_000003 - PubMed: Devi 2008 - rs28931604 Germline - - - 0 - DNA SEQ - - CTRCT - - affected father, son and daugther - - India - - 0 - - 3 Johan den Dunnen
?/. - c.502C>T r.(?) p.(Arg168Trp) Parent #1 - VUS g.208992950G>A g.208128226G>A - - CRYGC_000003 62 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28931604 Germline - 62/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 62 Mohammed Faruq
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